ClinVar Genomic variation as it relates to human health
NM_000404.4(GLB1):c.176G>A (p.Arg59His)
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000404.4(GLB1):c.176G>A (p.Arg59His)
Variation ID: 945 Accession: VCV000000945.55
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p22.3 3: 33072613 (GRCh38) [ NCBI UCSC ] 3: 33114105 (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 Apr 4, 2013 May 1, 2024 Jan 22, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000404.4:c.176G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000395.3:p.Arg59His missense NM_001079811.3:c.86G>A NP_001073279.2:p.Arg29His missense NM_001135602.3:c.176G>A NP_001129074.2:p.Arg59His missense NM_001317040.2:c.320G>A NP_001303969.2:p.Arg107His missense NM_001393580.1:c.176G>A NP_001380509.1:p.Arg59His missense NC_000003.12:g.33072613C>T NC_000003.11:g.33114105C>T NG_009005.1:g.29590G>A NP_000395.2:p.Arg59His - Protein change
- R59H, R107H, R29H
- Other names
- -
- Canonical SPDI
- NC_000003.12:33072612:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00004
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
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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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GLB1 | - | - |
GRCh38 GRCh37 |
1038 | 1143 |
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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Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Jul 27, 2021 | RCV000000995.12 | |
Pathogenic (1) |
no assertion criteria provided
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Mar 1, 2007 | RCV000000994.4 | |
Pathogenic (2) |
no assertion criteria provided
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Dec 18, 2017 | RCV000059350.4 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Jul 1, 2023 | RCV000078708.37 | |
Pathogenic (2) |
criteria provided, single submitter
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Nov 29, 2018 | RCV000175600.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 8, 2018 | RCV000778693.4 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Aug 7, 2021 | RCV000850557.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 22, 2024 | RCV000811276.5 | |
Likely pathogenic (2) |
criteria provided, single submitter
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Jan 9, 2019 | RCV000984179.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 5, 2022 | RCV001813729.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Jun 4, 2021 | RCV004018531.1 | |
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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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Pathogenic
(Nov 29, 2018)
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criteria provided, single submitter
Method: clinical testing
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Mucopolysaccharidosis, MPS-IV-B
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919467.1
First in ClinVar: Jun 02, 2019 Last updated: Jun 02, 2019 |
Comment:
Variant summary: GLB1 c.176G>A (p.Arg59His) results in a non-conservative amino acid change located in the Glycoside hydrolase 35, catalytic domain of the encoded protein sequence. … (more)
Variant summary: GLB1 c.176G>A (p.Arg59His) results in a non-conservative amino acid change located in the Glycoside hydrolase 35, catalytic domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-05 in 120758 control chromosomes. c.176G>A has been reported in the literature in multiple individuals affected with Mucopolysaccharidosis Type IVB (Morquio Syndrome B) (Santamaria_2007, Silva_1999), in which two homozygote patients were found to have <10% enzyme activity (Santamaria_2007). These data indicate that the variant is very likely to be associated with disease. A ClinVar submssion from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jul 27, 2021)
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criteria provided, single submitter
Method: clinical testing
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Infantile GM1 gangliosidosis
Affected status: yes
Allele origin:
germline
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Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV002512229.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
Comment:
ACMG classification criteria: PS3 supporting, PS4 strong, PM2 moderate, PM3 very strong, PP3 supporting, PP4 supporting
Geographic origin: Brazil
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Pathogenic
(Mar 29, 2022)
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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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Revvity Omics, Revvity
Accession: SCV003826416.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Pathogenic
(Jul 01, 2023)
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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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001248014.20
First in ClinVar: May 12, 2020 Last updated: Apr 15, 2024 |
Comment:
GLB1: PM3:Very Strong, PM1, PM2, PM5, PP4:Moderate, PS3:Supporting
Number of individuals with the variant: 6
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Pathogenic
(Jun 04, 2021)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004876418.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.176G>A (p.R59H) alteration is located in exon 2 (coding exon 2) of the GLB1 gene. This alteration results from a G to A substitution … (more)
The c.176G>A (p.R59H) alteration is located in exon 2 (coding exon 2) of the GLB1 gene. This alteration results from a G to A substitution at nucleotide position 176, causing the arginine (R) at amino acid position 59 to be replaced by a histidine (H). Based on data from the Genome Aggregation Database (gnomAD) database, the GLB1 c.176G>A alteration was observed in 0.0036% (9/249484) of total alleles studied, with a frequency of 0.0087% (3/34526) in the Latino subpopulation. This alteration has been identified in the homozygous state or compound heterozygous with a second GLB1 variant in many patients with infantile (type I) GM1-gangliosidosis (Higaki, 2011; Morrone, 2000; Santamaria, 2006; Santamaria, 2007a; Silva, 1999). This alteration has also been observed with a second GLB1 variant in two patients with the adult form (type III) of GM1 gangliosidosis (Giugliani, 2019). This amino acid position is highly conserved in available vertebrate species. Expression studies have shown this variant is associated with no residual GLB1 enzyme activity (Caciotti, 2005; Santamaria, 2007b). The p.R59H alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic. (less)
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Pathogenic
(Mar 08, 2018)
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criteria provided, single submitter
Method: clinical testing
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GM1 gangliosidosis
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000915044.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
Across a selection of the available literature, the GLB1 c.176G>A (p.Arg59His) missense variant has been reported in at least three studies and is found in … (more)
Across a selection of the available literature, the GLB1 c.176G>A (p.Arg59His) missense variant has been reported in at least three studies and is found in at least 15 individuals with GM1-gangliosidosis, including in ten in a homozygous state and in five in a compound heterozygous state (Silva et al. 1999; Morrone et al. 2000; Santamaria et al. 2007). All of the reported probands presented with infantile GM1-gangliosidosis. The p.Arg59His variant was absent from 200 control chromosomes and is reported at a frequency of 0.000089 in the Latino population of the Genome Aggregation Database. Functional analysis in proband fibroblasts and COS-7 cells found that the p.Arg59His variant exhibited a nearly complete loss of enzymatic activity compared to wild type (Santamaria et al. 2007). Based on the evidence, the p.Arg59His variant is classified as pathogenic for GM1-gangliosidosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(Feb 18, 2013)
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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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Eurofins Ntd Llc (ga)
Accession: SCV000227115.5
First in ClinVar: Jun 28, 2015 Last updated: Jul 31, 2019 |
Number of individuals with the variant: 3
Sex: mixed
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Pathogenic
(Jul 03, 2012)
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criteria provided, single submitter
Method: clinical testing
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Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B
Affected status: yes
Allele origin:
germline
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Baylor Genetics
Accession: SCV000992771.1
First in ClinVar: Sep 21, 2019 Last updated: Sep 21, 2019 |
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Likely pathogenic
(Jan 09, 2019)
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criteria provided, single submitter
Method: clinical testing
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GM1 gangliosidosis type 3
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001370082.2
First in ClinVar: Jul 06, 2020 Last updated: Dec 12, 2020 |
Comment:
This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3,PP2.
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Pathogenic
(Jan 05, 2022)
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criteria provided, single submitter
Method: clinical testing
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GLB1-Related Disorders
Affected status: yes
Allele origin:
germline
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DASA
Accession: SCV002061268.1
First in ClinVar: Jan 22, 2022 Last updated: Jan 22, 2022 |
Comment:
The c.176G>A;p.(Arg59His) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID: 945; PMID: 10338095; 21637542; 17309651; … (more)
The c.176G>A;p.(Arg59His) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID: 945; PMID: 10338095; 21637542; 17309651; 16941474; 10737981) - PS4. Well-established in vitro or in vivo functional studies support a damaging effect on the gene or gene product (PMID: 17664528; 15714521; 31776384) - PS3_moderate. The variant is present at low allele frequencies population databases (rs72555392– gnomAD 0.0003607%; ABraOM 0.000427 frequency - http://abraom.ib.usp.br/) - PM2_supporting. The p.(Arg59His) was detected in trans with a pathogenic variant (PMID: 10338095; 17309651; 16941474; 10737981) - PM3_very strong Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. In summary, the currently available evidence indicates that the variant is pathogenic. (less)
Number of individuals with the variant: 1
Sex: female
Geographic origin: Brazil
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Pathogenic
(Jul 23, 2021)
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criteria provided, single submitter
Method: clinical testing
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Infantile GM1 gangliosidosis
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002579350.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PS3, PS4, PM2_SUP, PP2, PP3
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Number of individuals with the variant: 1
Sex: female
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Pathogenic
(Aug 07, 2021)
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criteria provided, single submitter
Method: clinical testing
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Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002788809.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Nov 11, 2021)
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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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GeneDx
Accession: SCV000490538.4
First in ClinVar: Mar 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Functional studies in COS-1 cells found that this variant is associated with no residual enzyme activity (Caciotti et al., 2005; Santamaria et al., 2007); In … (more)
Functional studies in COS-1 cells found that this variant is associated with no residual enzyme activity (Caciotti et al., 2005; Santamaria et al., 2007); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17664528, 10338095, 15714521, 28939701, 10737981, 16466959, 16941474, 31761138, 31216405, 32036093, 33726816) (less)
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Pathogenic
(Jan 22, 2024)
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criteria provided, single submitter
Method: clinical testing
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Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000951534.5
First in ClinVar: Aug 14, 2019 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 59 of the GLB1 protein (p.Arg59His). … (more)
This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 59 of the GLB1 protein (p.Arg59His). This variant is present in population databases (rs72555392, gnomAD 0.009%). This missense change has been observed in individuals with GM1 gangliosidosis (PMID: 10338095, 16941474, 17309651, 17664528). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 945). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GLB1 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects GLB1 function (PMID: 17664528). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Mar 01, 2007)
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no assertion criteria provided
Method: literature only
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GM1-GANGLIOSIDOSIS, TYPE I
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000021145.3
First in ClinVar: Apr 04, 2013 Last updated: May 10, 2021 |
Comment on evidence:
In 2 sibs from northeast Italy with infantile GM1-gangliosidosis with cardiac involvement (see 230500), Morrone et al. (2000) identified a homozygous 176G-A transition in exon … (more)
In 2 sibs from northeast Italy with infantile GM1-gangliosidosis with cardiac involvement (see 230500), Morrone et al. (2000) identified a homozygous 176G-A transition in exon 2 of the GLB1 gene, resulting in an arg59-to-his (R59H) substitution within the region common to the lysosomal enzyme and the EPB. In addition to classic type I symptoms, the patients showed dilated cardiomyopathy and hypertrophic cardiomyopathy, respectively . Santamaria et al. (2007) identified the R59H mutation in 6 (15.8%) of 38 mutant GLB1 alleles in patients with GM1-gangliosidosis from South America, mainly Argentina. All had the type I phenotype (GM1G1; 230500). Two unrelated patients of Gypsy origin were homozygous for this mutation. Some, but apparently not all, had cardiac involvement. (less)
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Pathogenic
(Mar 01, 2007)
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no assertion criteria provided
Method: literature only
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GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000021144.3
First in ClinVar: Apr 04, 2013 Last updated: May 10, 2021 |
Comment on evidence:
In 2 sibs from northeast Italy with infantile GM1-gangliosidosis with cardiac involvement (see 230500), Morrone et al. (2000) identified a homozygous 176G-A transition in exon … (more)
In 2 sibs from northeast Italy with infantile GM1-gangliosidosis with cardiac involvement (see 230500), Morrone et al. (2000) identified a homozygous 176G-A transition in exon 2 of the GLB1 gene, resulting in an arg59-to-his (R59H) substitution within the region common to the lysosomal enzyme and the EPB. In addition to classic type I symptoms, the patients showed dilated cardiomyopathy and hypertrophic cardiomyopathy, respectively . Santamaria et al. (2007) identified the R59H mutation in 6 (15.8%) of 38 mutant GLB1 alleles in patients with GM1-gangliosidosis from South America, mainly Argentina. All had the type I phenotype (GM1G1; 230500). Two unrelated patients of Gypsy origin were homozygous for this mutation. Some, but apparently not all, had cardiac involvement. (less)
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Pathogenic
(Dec 18, 2017)
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no assertion criteria provided
Method: clinical testing
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GM1 gangliosidosis type 2
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV001132206.1
First in ClinVar: Dec 23, 2019 Last updated: Dec 23, 2019 |
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Pathogenic
(Dec 18, 2017)
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no assertion criteria provided
Method: clinical testing
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Infantile GM1 gangliosidosis
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV001132205.1
First in ClinVar: Dec 23, 2019 Last updated: Dec 23, 2019 |
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Pathogenic
(Dec 18, 2017)
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no assertion criteria provided
Method: clinical testing
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GM1 gangliosidosis type 3
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV001132207.1
First in ClinVar: Dec 23, 2019 Last updated: Dec 23, 2019 |
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Pathogenic
(Dec 18, 2017)
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no assertion criteria provided
Method: clinical testing
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Mucopolysaccharidosis, MPS-IV-B
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV001132208.1
First in ClinVar: Dec 23, 2019 Last updated: Dec 23, 2019 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001744239.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001952022.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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not provided
(-)
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no classification provided
Method: literature only
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Infantile GM1 gangliosidosis
Affected status: unknown
Allele origin:
germline
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GeneReviews
Accession: SCV001821206.2
First in ClinVar: Sep 08, 2021 Last updated: Oct 01, 2022 |
Comment:
High prevalence in Roma and Brazilian populations; associated with GM1 infantile and juvenile forms
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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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Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders. | Zanetti A | The Journal of molecular diagnostics : JMD | 2020 | PMID: 32036093 |
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content. | Tonin R | Scientific reports | 2019 | PMID: 31776384 |
The Clinical and Molecular Spectrum of GM1 Gangliosidosis. | Arash-Kaps L | The Journal of pediatrics | 2019 | PMID: 31761138 |
Clinical findings in Brazilian patients with adult GM1 gangliosidosis. | Giugliani L | JIMD reports | 2019 | PMID: 31497487 |
Reanalysis of Clinical Exome Sequencing Data. | Liu P | The New England journal of medicine | 2019 | PMID: 31216405 |
Rapid Targeted Genomics in Critically Ill Newborns. | van Diemen CC | Pediatrics | 2017 | PMID: 28939701 |
Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis. | Vedak P | Pediatric dermatology | 2015 | PMID: 26337817 |
Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis. | Sperb F | Gene | 2013 | PMID: 23046582 |
Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients. | Coutinho MF | Clinical genetics | 2012 | PMID: 21214877 |
Population analysis of the GLB1 gene in South Brazil. | Baiotto C | Genetics and molecular biology | 2011 | PMID: 21637542 |
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. | Higaki K | Human mutation | 2011 | PMID: 21520340 |
Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. | Santamaria R | Journal of lipid research | 2007 | PMID: 17664528 |
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. | Santamaria R | Clinical genetics | 2007 | PMID: 17309651 |
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies. | Santamaria R | Human mutation | 2006 | PMID: 16941474 |
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. | Melis D | European journal of pediatrics | 2005 | PMID: 15906092 |
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. | Caciotti A | Human mutation | 2005 | PMID: 15714521 |
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. | Morrone A | Human mutation | 2000 | PMID: 10737981 |
Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis. | Silva CM | Human mutation | 1999 | PMID: 10338095 |
Structure and mutation analysis of the glycogen storage disease type 1b gene. | Marcolongo P | FEBS letters | 1998 | PMID: 9781688 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GLB1 | - | - | - | - |
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Text-mined citations for rs72555392 ...
HelpRecord last updated May 01, 2024
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.