ClinVar Genomic variation as it relates to human health
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Likely pathogenic(2);Uncertain significance(10)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
Variation ID: 42454 Accession: VCV000042454.12
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: Xq22.1 X: 101403828 (GRCh38) [ NCBI UCSC ] X: 100658816 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Mar 23, 2016 Jan 13, 2020 Sep 10, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000169.2:c.352C>T NP_000160.1:p.Arg118Cys missense NM_000169.3:c.352C>T NP_000160.1:p.Arg118Cys missense NM_001199973.2:c.301-8108G>A intron variant NM_001199974.2:c.178-8108G>A intron variant NR_164783.1:n.374C>T non-coding transcript variant NC_000023.11:g.101403828G>A NC_000023.10:g.100658816G>A NG_007119.1:g.9136C>T NG_016327.1:g.626G>A LRG_672:g.9136C>T LRG_672t1:c.352C>T - Protein change
- R118C
- Other names
- p.R118C:CGC>TGC
- Canonical SPDI
- NC_000023.11:101403827:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- effect on protein activity Variation Ontology [VariO:0053]
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00032
Trans-Omics for Precision Medicine (TOPMed) 0.00041
Exome Aggregation Consortium (ExAC) 0.00025
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
The Genome Aggregation Database (gnomAD), exomes 0.00022
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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GLA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
7 | - | |
RPL36A-HNRNPH2 | - | - | - |
GRCh38 GRCh37 |
- | 1289 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (3) |
criteria provided, multiple submitters, no conflicts
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Sep 10, 2019 | RCV000035303.9 | |
Conflicting classifications of pathogenicity (6) |
criteria provided, conflicting classifications
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May 28, 2019 | RCV000078277.12 | |
Uncertain significance (1) |
criteria provided, single submitter
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Dec 18, 2018 | RCV000619869.1 | |
Conflicting classifications of pathogenicity (3) |
criteria provided, conflicting classifications
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Jan 11, 2018 | RCV000723556.4 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
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Jan 22, 2019 | RCV000769541.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Oct 26, 2017)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000207820.12
First in ClinVar: Feb 24, 2015 Last updated: Dec 19, 2017 |
Comment:
The R118C variant of uncertain significance in the GLA gene has been previously reported in association with both classical and late-onset Fabry disease (Spada et … (more)
The R118C variant of uncertain significance in the GLA gene has been previously reported in association with both classical and late-onset Fabry disease (Spada et al., 2006; Gaspar et al., 2010; Baptista et al., 2010; Tucara et al., 2012; Pasqualim et al., 2014; Savary et al., 2017; Gonçalves et al., 2017; Nowak et al., 2017). However, the R118C variant has also been reported in patients who do not meet clinical criteria for a diagnosis of Fabry disease (Morais et al., 2008; Kilarski et al., 2015; de Greef et al., 2016) and in patients with cardiomyopathy who do not have other features of Fabry disease (Golbus et al., 2014; Caetano et al., 2014). Specifically, Golbus et al. (2014) identified R118C in conjunction with a second variant in TMP1 in a patient with DCM who required a heart transplant; his less severely affected mother and sisters were also found to harbor R118C, and his mildly affected brother was found to harbor the TMP1 variant. In addition, Ferreira et al. (2015) reviewed the biochemical and histophathological data on 22 Portuguese and Spanish individuals with R118C and determined this variant does not segregate with a classical Fabry disease phenotype. Current classifications of R118C in ClinVar are also conflicting; it is described as both a likely pathogenic variant and a variant of uncertain significance (SCV000058951.4) by other clinical laboratories. The R118C variant is observed in up to 0.1% of alleles from individuals of European ancestry in large population cohorts, including at least eight individuals who were hemizygous for R118C (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server), indicating that it may be a rare benign variant in this population.Functional studies of the R118C variant have been performed by several investigators (Lukas et al., 2013; Spada et al., 2006; Gaspar et al., 2010). In vitro over-expression studies indicate the variant is abundantly present in cells and is processed correctly but has impaired catalytic activity. Lukas et al. (2013) and Spada et al. (2006) reported R118C shows residual alpha-galactosidase activity ranging from 20% to 29% of wild type. Gaspar et al. (2010) reported that residual alpha-galactosidase activity was 22% of the wild type control mean for one hemizygous male and 60% to 79% of the control mean for two heterozygous females. Thus, alpha-galactosidase activity in individuals carrying this variant appears to be reduced, but does not reach levels typically associated with classic Fabry disease. Spada et al. (2006) reported that R118C has structural characteristics and in vitro over-expression levels similar to other late-onset GLA variants. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. (less)
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Likely pathogenic
(Jan 11, 2018)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000110117.8
First in ClinVar: Jan 17, 2014 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 32
Sex: mixed
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Uncertain significance
(Mar 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000900937.1 First in ClinVar: May 06, 2019 Last updated: May 06, 2019 |
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Likely pathogenic
(Dec 04, 2018)
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criteria provided, single submitter
Method: clinical testing
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Fabry disease
Affected status: unknown
Allele origin:
germline
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Illumina Clinical Services Laboratory,Illumina
Accession: SCV000916273.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
Across a selection of the available literature, the GLA c.352C>T (p.Arg118Cys) variant has been identified in at least 15 male probands in a hemizygous state, … (more)
Across a selection of the available literature, the GLA c.352C>T (p.Arg118Cys) variant has been identified in at least 15 male probands in a hemizygous state, at least 13 female probands in a heterozygous state, and three females in a homozygous state (two of whom had symptoms consistent with brain involvement and one who was asymptomatic) (Spada et al. 2006; Gaspar et al. 2010; Baptista et al. 2010; Genoni et al.2011; Turaca et al. 2012; Herrera et al. 2014; Caetano et al. 2014; Ferreira et al. 2015). Most probands reported to carry the p.Arg118Cys variant exhibited symptoms of an atypical or late-onset form of Fabry disease, Fabry-related disorders (Fabry-RD), including renal disease, hypertrophic cardiomyopathy or stroke rather than the classic form of Fabry disease. The p.Arg118Cys variant was absent from at least 1040 control chromosomes and is reported at a frequency of 0.00059 in the European American population of the Exome Sequencing Project. The p.Arg118Cys variant results in reduced enzyme activity ranging from 5%-79% of wild type in a variety of proband sample types (Spada et al. 2006; Gaspar et al. 2010; Lukas et al. 2013; Ferreira et al. 2015). The level of enzyme activity found in probands with the p.Arg118Cys variant is too high to be consistent with a diagnosis of classic Fabry disease but is consistent with an atypical presentation. Functional studies of the p.Arg118Cys variant in both HEK293 cells and COS-7 cells demonstrated reduced enzyme activity (between five and 20 percent) compared to the wild type (Spada et al. 2006; Lukas et al. 2013). Based on the collective evidence, the p.Arg118Cys variant is classified as likely pathogenic for an atypical form of Fabry Disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Uncertain significance
(Sep 10, 2019)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Integrated Genetics/Laboratory Corporation of America
Accession: SCV000917442.2
First in ClinVar: Jun 02, 2019 Last updated: Nov 10, 2019 |
Comment:
Variant summary: GLA c.352C>T (p.Arg118Cys) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging … (more)
Variant summary: GLA c.352C>T (p.Arg118Cys) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00024 in 206690 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in GLA causing Fabry Disease (0.00024 vs 0.005), allowing no conclusion about variant significance. However, the finding of 17 hemizygous occurrences in gnomAD may be evidence against pathogenicity, although the possibility of reduced penetrance and/or subclinical cases cannot be ruled out. This variant has been found in patients predominantly of Portuguese or Spanish ancestry, with clinical features ranging from no symptoms to acute cerebrovascular disease, ischemic stroke, intracerebral hemorrhage, cerebral venous thrombosis, kidney diseases, dilated cardiomyopathy, and hypertrophic cardiomyopathy (Rolfs _2013, Baptista_2010, Gaspar_2010, Valbuena_2012, Morais_2008, Golbus_2014, Caetano_2014). In patients (harboring this variant) who presented with cardiological manifestations that are shared by Fabry disease (FD) as well as other independent cardiac phenotypes (such as DCM), a deleterious variant was also found (TPM1 D230N; Golbus_2014). Additionally, this variant has been reported in patients who did not meet clinical criteria for FD (Morais_2008, de Greef_2016, Kilarski_2015). Further, Ferreira et al reviewed the clinical, biochemical and histopathology data obtained from 22 individuals of Portuguese and Spanish ancestry carrying the R118C allele and concluded that the variant did not segregate with FD clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease (Ferreira_2015). Although in vitro studies strongly suggests decreased enzymatic activity associated with this variant (Lukas_2013, Spada_2006), enzymatic evaluation in patients' blood or plasma varied from reduced enzymatic level to normal levels. 12 other submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with conflicting assessments (9x uncertain significance and 2x pathogenic). Taken together, this variant is classified as VUS until more definitive data on genotype-phenotype associations and disease progression/natural history and burden become available. (less)
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Uncertain significance
(Dec 18, 2018)
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criteria provided, single submitter
Method: clinical testing
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Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000736028.2
First in ClinVar: Apr 14, 2018 |
Comment:
Insufficient or conflicting evidence
Number of individuals with the variant: 1
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Uncertain significance
(Aug 13, 2018)
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criteria provided, single submitter
Method: clinical testing
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Fabry disease
Affected status: unknown
Allele origin:
germline
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Color
Accession: SCV000904642.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
Comment:
Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the GLA protein. Computational prediction tools and conservation analyses are inconclusive … (more)
Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the GLA protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact the RNA splicing. Experimental studies have shown that this variant may cause partially reduced alpha-Gal enzyme activity (20-30% wild-type activity) in mammalian cells (PMID: 23935525, 16773563). However, clinical significance of this finding is unknown. This variant has been reported in multiple individuals affected with late-onset Fabry disease (PMID: 20122163, 22551898, 25468652). This variant is not rare in the general population and has been identified in 43/200247 chromosomes by the Genome Aggregation Database (gnomAD). A study of 22 individuals of Portuguese and Spanish ancestry carrying this variant, including 3 homozygous females, has suggested that this variant does not appear to segregate with Fabry disease (PMID: 25468652). Available evidence is insufficient to determine the pathogenicity of this variant conclusively. (less)
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Uncertain significance
(Oct 26, 2017)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: yes
Allele origin:
germline
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Blueprint Genetics
Accession: SCV000927454.1
First in ClinVar: Jul 31, 2019 Last updated: Jul 31, 2019 |
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Uncertain significance
(Nov 15, 2018)
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criteria provided, single submitter
Method: clinical testing
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Fabry disease
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000543767.4
First in ClinVar: Mar 23, 2016 Last updated: Aug 14, 2019 |
Comment:
This sequence change replaces arginine with cysteine at codon 118 of the GLA protein (p.Arg118Cys). The arginine residue is weakly conserved and there is a … (more)
This sequence change replaces arginine with cysteine at codon 118 of the GLA protein (p.Arg118Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs148158093, ExAC 0.04%, with 8 hemizygous males). This variant has been reported in multiple individuals affected with late-onset Fabry disease (PMID: 16773563, 20110537, 20122163, 21890869, 22551898, 29631605). Due to variable expressivity of the disease, currently there is insufficient data to support disease co-segregation (PMID: 25179549, 25468652). Some studies have called the pathogenicity of this variant into question because it has been observed as homozygous in three related females who do not have Fabry disease, and in individuals who do not have evidence of storage on renal biopsy (PMID: 18830871, 25468652). ClinVar contains an entry for this variant (Variation ID: 42454). Experimental studies have shown that this variant causes partial deficiency with residual alpha-Gal enzyme activity (<25% wild-type activity) in human or mammalian cell lines (PMID: 16773563, 23935525). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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Uncertain significance
(Mar 19, 2018)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000058951.5
First in ClinVar: May 03, 2013 Last updated: Dec 19, 2017 |
Comment:
The p.Arg118Cys variant in GLA has been reported in 11 individuals with classic or late-onset Fabry disease and segregated with disease in at least 2 … (more)
The p.Arg118Cys variant in GLA has been reported in 11 individuals with classic or late-onset Fabry disease and segregated with disease in at least 2 affected f amily members. This variant has also been identified in at least 2 individuals w ith reduced a-galactosidase activity, 6 individuals who had stroke, 1 individual who had MI, 1 individual with small fiber neuropathy, 1 individual with juvenil e idiopathic arthritis, 4 individuals with LVH, 1 child with HCM, 2 infants with RCM and DCM, and 3 individuals with other phenotypes (Spada 2006, Gaspar 2010, Baptista 2010, Kiesling 2014, Genoni 2011, Morais 2008, Elliott 2011, Turaca 201 2, Caetano 2014, Pasqualim 2014, Colon 2017, Barajas-Colon 2017, de Greef 2016, Goncalves 2017, Kilarski 2015, Schiffmann 2017, Samuelsson 2014, Ferreira 2015). However, this variant has also been reported in 7 asymptomatic family members, including 3 homozygous females, (Ferreira 2015) and did not segregate with cardi ac phenotypes in 3 affected family members of 2 different families (Golbus 2014, LMM data). This variant has been reported in ClinVar (Variation ID 42454) and h as been identified in 36/90523 of European chromosomes, including 14 hemizygotes , by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs148158093). GLA activity in individuals carrying this variant was reduce d, but did not reach levels associated with classic Fabry disease. Similarly, in vitro functional studies showed enzyme activity of 20-29% (Spada 2006, Lukas 20 13). Computational prediction tools and conservation analysis suggest that the p .Arg118Cys variant may impact the protein, though this information is not predic tive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg118Cys variant is uncertain due to conflicting data. ACMG/AMP Criteria applied: PS4_M; PVS1_Moderate; PP1; PP3; BS4. (less)
Number of individuals with the variant: 4
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Uncertain significance
(Jan 22, 2019)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: yes
Allele origin:
germline
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Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego
Accession: SCV000995284.1
First in ClinVar: Oct 12, 2019 Last updated: Oct 12, 2019 |
Number of individuals with the variant: 1
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Uncertain significance
(May 28, 2019)
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criteria provided, single submitter
Method: clinical testing
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Fabry disease
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV001141981.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
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Uncertain significance
(Jan 05, 2017)
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no assertion criteria provided
Method: literature only
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Fabry disease
Affected status: unknown
Allele origin:
germline
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GeneReviews
Accession: SCV000494667.1
First in ClinVar: Mar 23, 2016 Last updated: Mar 23, 2016 |
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Uncertain significance
(Aug 01, 2016)
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no assertion criteria provided
Method: research
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Fabry disease
(X-linked inheritance)
Affected status: unknown
Allele origin:
germline
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CSER _CC_NCGL, University of Washington
Study: CSER - NEXT Medicine variant annotation
Accession: SCV000503540.1 First in ClinVar: Mar 23, 2016 Last updated: Mar 23, 2016 |
Comment:
Found in a female patient having exome sequencing for an unrelated indication. No known history of Fabry disease.
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Likely benign
(Sep 16, 2018)
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no assertion criteria provided
Method: research
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not provided
Affected status: no
Allele origin:
germline
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Gharavi Laboratory,Columbia University
Accession: SCV000920682.1
First in ClinVar: Jun 09, 2019 Last updated: Jun 09, 2019 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Fabry Disease. | Adam MP | - | 2024 | PMID: 20301469 |
GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease? | Chaves-Markman ÂV | Arquivos brasileiros de cardiologia | 2019 | PMID: 31291414 |
Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant. | Talbot A | JIMD reports | 2019 | PMID: 30569317 |
Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017. | Doheny D | Journal of medical genetics | 2018 | PMID: 29330335 |
The p.Arg118Cys Variant in the GLA Gene Does Not Cause Fabry Disease. More Evidence. | Barbeito-Caamaño C | Revista espanola de cardiologia (English ed.) | 2018 | PMID: 28941980 |
Newborn screening for Fabry disease in the north-west of Spain. | Colon C | European journal of pediatrics | 2017 | PMID: 28646478 |
Enhancing the diagnosis of fabry disease in cardiology with a targeted information: a before-after control-impact study. | Savary AL | Open heart | 2017 | PMID: 28409012 |
Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients. | Gonçalves MJ | Frontiers in medicine | 2017 | PMID: 28299312 |
No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy. | de Greef BT | PloS one | 2016 | PMID: 26866599 |
Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke. | Kilarski LL | PloS one | 2015 | PMID: 26305465 |
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies. | Ferreira S | Molecular genetics and metabolism | 2015 | PMID: 25468652 |
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy. | Golbus JR | Circulation. Cardiovascular genetics | 2014 | PMID: 25179549 |
Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease. | Samuelsson K | Journal of clinical neurology (Seoul, Korea) | 2014 | PMID: 24829596 |
Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C. | Caetano F | Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology | 2014 | PMID: 24661928 |
Fabry disease: a new approach for the screening of females in high-risk groups. | Pasqualim G | Clinical biochemistry | 2014 | PMID: 24582695 |
Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease. | Niemann M | Circulation. Cardiovascular genetics | 2014 | PMID: 24395922 |
Prevalence of Fabry's disease within hemodialysis patients in Spain. | Herrera J | Clinical nephrology | 2014 | PMID: 24365053 |
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. | van der Tol L | Journal of medical genetics | 2014 | PMID: 23922385 |
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. | Lukas J | PLoS genetics | 2013 | PMID: 23935525 |
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. | Rolfs A | Stroke | 2013 | PMID: 23306324 |
New mutations in the GLA gene in Brazilian families with Fabry disease. | Turaça LT | Journal of human genetics | 2012 | PMID: 22551898 |
Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations. | Chien YH | Molecular medicine (Cambridge, Mass.) | 2012 | PMID: 22437327 |
Immunohistochemical diagnosis of Fabry nephropathy and localisation of globotriaosylceramide deposits in paraffin-embedded kidney tissue sections. | Valbuena C | Virchows Archiv : an international journal of pathology | 2012 | PMID: 22205110 |
[Early diagnosis of Fabry disease in children]. | Genoni G | Minerva pediatrica | 2011 | PMID: 21946453 |
Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey. | Elliott P | Heart (British Cardiac Society) | 2011 | PMID: 21890869 |
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? | Auray-Blais C | Clinica chimica acta; international journal of clinical chemistry | 2010 | PMID: 20716442 |
Frequency of Fabry disease in male and female haemodialysis patients in Spain. | Gaspar P | BMC medical genetics | 2010 | PMID: 20122163 |
Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients. | Baptista MV | Stroke | 2010 | PMID: 20110537 |
Angiokeratomas of Fabry successfully treated with intense pulsed light. | Morais P | Journal of cosmetic and laser therapy : official publication of the European Society for Laser Dermatology | 2008 | PMID: 18830871 |
High incidence of later-onset fabry disease revealed by newborn screening. | Spada M | American journal of human genetics | 2006 | PMID: 16773563 |
A comparison of brain glucose metabolism in diabetes as measured by positron emission tomography or by arteriovenous techniques. | Grill V | Annals of medicine | 1990 | PMID: 2393552 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GLA | - | - | - | - |
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Text-mined citations for rs148158093 ...
HelpRecord last updated Jul 22, 2021
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.