ClinVar Genomic variation as it relates to human health
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
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_000049.4(ASPA):c.854A>C (p.Glu285Ala)
Variation ID: 2605 Accession: VCV000002605.130
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17p13.2 17: 3499000 (GRCh38) [ NCBI UCSC ] 17: 3402294 (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 Jul 23, 2024 Mar 30, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000049.4:c.854A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000040.1:p.Glu285Ala missense NM_001128085.1:c.854A>C NP_001121557.1:p.Glu285Ala missense NM_001321336.2:c.-74+14412T>G intron variant NM_001321337.2:c.-74+14412T>G intron variant NC_000017.11:g.3499000A>C NC_000017.10:g.3402294A>C NG_008399.2:g.30355A>C NG_008399.3:g.29892A>C P45381:p.Glu285Ala - Protein change
- E285A
- Other names
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854A-C
- Canonical SPDI
- NC_000017.11:3498999:A:C
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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.
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Trans-Omics for Precision Medicine (TOPMed) 0.00026
The Genome Aggregation Database (gnomAD) 0.00028
Exome Aggregation Consortium (ExAC) 0.00036
The Genome Aggregation Database (gnomAD), exomes 0.00043
- Links
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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ASPA | - | - |
GRCh38 GRCh37 |
18 | 492 | |
SPATA22 | - | - |
GRCh38 GRCh37 |
24 | 596 |
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 (14) |
criteria provided, multiple submitters, no conflicts
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Mar 30, 2024 | RCV000002723.54 | |
Pathogenic (1) |
criteria provided, single submitter
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Jun 25, 2016 | RCV000590467.9 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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May 2, 2022 | RCV000420704.19 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 6, 2017 | RCV002444416.9 |
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
(Jan 15, 2016)
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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: SCV000231463.5
First in ClinVar: Jun 28, 2015 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 6
Sex: mixed
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Pathogenic
(Nov 24, 2018)
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criteria provided, single submitter
Method: clinical testing
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Spongy degeneration of central nervous system
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000914761.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The ASPA c.854A>C (p.Glu285Ala) missense variant has been reported in two studies in which it was found in a total of 19 individuals with Canavan … (more)
The ASPA c.854A>C (p.Glu285Ala) missense variant has been reported in two studies in which it was found in a total of 19 individuals with Canavan disease. The p.Glu285Ala variant was identified in a homozygous state in 12 individuals, in a compound heterozygous state in two individuals and in a heterozygous state in five individuals in whom the second variant was not identified (Kaul et al. 1993; Zano et al. 2013). The p.Glu285Ala variant along with a second missense variant (p.Tyr231Ter), accounts for 98% of disease-causing alleles in the Ashkenazi Jewish population and 3% of alleles in non-Ashkenazi Jewish populations (Matalon and Michals-Matalon, 1999). The p.Glu285Ala variant was absent from 84 controls and is reported at a frequency of 0.009257 in the Ashkenazi Jewish population of the Genome Aggregation Database. Functional studies in vitro have shown the enzyme activity to be 0.02% of the wild type (Zano et al. 2013). Based on the collective evidence, the p.Glu285Ala variant is classified as pathogenic for Canavan disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(Oct 02, 2014)
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criteria provided, single submitter
Method: clinical testing
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Spongy degeneration of central nervous system
(Autosomal recessive inheritance)
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000245578.2
First in ClinVar: Sep 14, 2015 Last updated: Apr 09, 2018 |
Comment:
The p.Glu285Ala variant in ASPA is one of the most frequent pathogenic variants implicated in Canavan disease and has been reported in at least 19 … (more)
The p.Glu285Ala variant in ASPA is one of the most frequent pathogenic variants implicated in Canavan disease and has been reported in at least 19 Ashkenazi Jew ish individuals with the disease. Most of these individuals were homozygous (Kau l 1993). This variant has also been identified 0.04% (43/120,682) of chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSN P rs28940279). In vitro functional studies also provide evidence that the p.Glu 285Ala variant may impact protein function, leading to <1% of wild type enzymati c activity (Zano 2013). In summary, this variant meets our criteria to be classi fied as pathogenic for Canavan disease in an autosomal recessive manner based up on its biallelic occurrence in affected individuals and functional impact. (less)
Number of individuals with the variant: 3
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Pathogenic
(Nov 07, 2021)
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criteria provided, single submitter
Method: clinical testing
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Spongy degeneration of central nervous system
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV002033195.1
First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
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Pathogenic
(May 02, 2022)
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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: SCV000512105.5
First in ClinVar: Mar 08, 2017 Last updated: Mar 04, 2023 |
Comment:
Expression studies found that E285A is associated with 0.3% of wild-type aspartoacylase enzyme activity as well as reduced thermal and conformational stability (Zano et al., … (more)
Expression studies found that E285A is associated with 0.3% of wild-type aspartoacylase enzyme activity as well as reduced thermal and conformational stability (Zano et al., 2013); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23233226, 25003821, 22850825, 25333069, 21228398, 30609409, 20301412, 8037206, 31589614, 33304759, 8252036) (less)
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Pathogenic
(Dec 17, 2021)
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criteria provided, single submitter
Method: clinical testing
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Spongy degeneration of central nervous system
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002019551.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 25, 2024)
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criteria provided, single submitter
Method: clinical testing
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Spongy degeneration of central nervous system
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000218961.11
First in ClinVar: Mar 29, 2015 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 285 of the ASPA protein … (more)
This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 285 of the ASPA protein (p.Glu285Ala). This variant is present in population databases (rs28940279, gnomAD 0.9%). This missense change has been observed in individual(s) with Canavan disease (PMID: 8037206, 8252036). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2605). 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 ASPA protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects ASPA function (PMID: 25003821). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Mar 30, 2024)
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criteria provided, single submitter
Method: clinical testing
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Spongy degeneration of central nervous system
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV001163419.3
First in ClinVar: Mar 01, 2020 Last updated: Jun 17, 2024 |
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Pathogenic
(Jun 24, 2022)
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criteria provided, single submitter
Method: clinical testing
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Spongy degeneration of central nervous system
(Autosomal recessive inheritance)
Affected status: no
Allele origin:
germline
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV001245018.3
First in ClinVar: May 04, 2020 Last updated: Jul 23, 2024 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with Canavan disease (MIM#271900). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from glutamic acid to alanine. (I) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 for a recessive condition (113 heterozygotes, 0 homozygotes). (SP) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools and very highly conserved with a major amino acid change. (SP) 0604 - Variant is not located in an established domain, motif, hotspot or informative constraint region. (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This is a common mutation reported in Askenazi Jewish population and it has been reported multiple times as pathogenic (ClinVar, PMID: 34011350). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
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Pathogenic
(Jun 25, 2016)
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criteria provided, single submitter
Method: clinical testing
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Canavan Disease, Familial Form
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000694157.1
First in ClinVar: Mar 17, 2018 Last updated: Mar 17, 2018 |
Comment:
Variant summary: The ASPA c.854A>C (p.Glu285Ala) variant involves the alteration of a conserved nucleotide. Glu285 is predicted to be part of the catalytic domain of … (more)
Variant summary: The ASPA c.854A>C (p.Glu285Ala) variant involves the alteration of a conserved nucleotide. Glu285 is predicted to be part of the catalytic domain of aspartoacylase with the catalytic center of aspartoacylase involves a triad of Ser, His and Glu residues. 4/4 in silico tools predict a damaging outcome for this variant . Functional studies show that patients with this variant have very low enzyme activity. This variant was found in 43/120850 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.000633 (42/66354). These frequencies are lower than the estimated maximal expected allele frequency of a pathogenic ASPA variant (0.0079057). Furthermore, this variant is a commonly known AJ founder mutation in the literature. The variant has been identified in many compound heterozygous and homozygous patients in the literature. In addition, multiple clinical diagnostic laboratories classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
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Pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Spongy degeneration of central nervous system
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000894113.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
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Pathogenic
(Nov 12, 2019)
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criteria provided, single submitter
Method: clinical testing
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Spongy degeneration of central nervous system
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV001193950.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 06, 2020 |
Comment:
NM_000049.2(ASPA):c.854A>C(E285A) is classified as pathogenic in the context of Canavan disease. Sources cited for classification include the following: PMID 8252036, 8037206 and 22850825. Classification of … (more)
NM_000049.2(ASPA):c.854A>C(E285A) is classified as pathogenic in the context of Canavan disease. Sources cited for classification include the following: PMID 8252036, 8037206 and 22850825. Classification of NM_000049.2(ASPA):c.854A>C(E285A) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(Nov 06, 2017)
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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: SCV002678906.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.E285A pathogenic mutation (also known as c.854A>C), located in coding exon 6 of the ASPA gene, results from an A to C substitution at … (more)
The p.E285A pathogenic mutation (also known as c.854A>C), located in coding exon 6 of the ASPA gene, results from an A to C substitution at nucleotide position 854. The glutamic acid at codon 285 is replaced by alanine, an amino acid with dissimilar properties. This is the most common ASPA mutation in the Ashkenazi Jewish population. In one study of 17 Ashkenazi Jewish individuals with Canavan disease, 12 probands were homozygous for this mutation (parental carrier status confirmed in 3 cases) and 5 probands were heterozygous for this mutation (Kaul R et al. Nat. Genet., 1993 Oct;5:118-23). A study of the crystal structure of p.E285A mutant protein showed that loss of hydrogen bonding disturbs the active site architecture, leading to altered substrate binding and lower catalytic activity (Wijayasinghe YS et al. Biochemistry, 2014 Aug;53:4970-8). Based on the supporting evidence, p.E285A is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Aug 01, 1994)
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no assertion criteria provided
Method: literature only
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CANAVAN DISEASE
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000022881.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
Comment on evidence:
In affected patients with Canavan disease (271900), Kaul et al. (1993) identified an 854A-C transversion in the ASPA gene, resulting in a glu285-to-ala (E285A) substitution … (more)
In affected patients with Canavan disease (271900), Kaul et al. (1993) identified an 854A-C transversion in the ASPA gene, resulting in a glu285-to-ala (E285A) substitution predicted to be part of the catalytic domain of aspartoacylase. The same mutation was found in 29 of 34 alleles from a sample of 17 unrelated pedigrees of Ashkenazi Jewish descent. Of the 17 probands, 12 were found to be homozygous for the mutation and 5 were compound heterozygotes, the mutation on the second Canavan allele remaining to be determined. The authors noted that the findings suggested a founder effect of this mutation in the Jewish population. In 18 patients from Israel with Canavan disease, Elpeleg et al. (1994) found the E285A change in the homozygous state. All were Israeli Ashkenazi Jews. Among 879 healthy Israeli Ashkenazi Jews, 15 heterozygotes were found, representing a carrier rate of 1 in 59 and suggesting that a screening for the mutation is warranted among couples of particular ethnic background. (less)
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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:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001554326.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The ASPA p.Glu285Ala variant is a well-known causal variant for autosomal recessive Canavan disease (CD), and is known to be associated with 84% of CD … (more)
The ASPA p.Glu285Ala variant is a well-known causal variant for autosomal recessive Canavan disease (CD), and is known to be associated with 84% of CD alleles in the Ashkenazi Jewish population (Matalon_1997_PMID: 10464621). This variant was identified in dbSNP (ID: rs28940279), Clinvitae, MutDB, LOVD 3.0 and ClinVar (reported as pathogenic for CD by Invitae, Emory, Partners Laboratory for Molecular Medicine, GeneDx, Counsyl and Integrated Genetics). The variant was identified in control databases in 113 of 282830 chromosomes at a frequency of 0.0004 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Ashkenazi Jewish in 96 of 10370 chromosomes (freq: 0.009257), Other in 7 of 7228 chromosomes (freq: 0.000969), African in 2 of 24964 chromosomes (freq: 0.00008) and European (non-Finnish) in 8 of 129156 chromosomes (freq: 0.000062); it was not observed in the Latino, East Asian, European (Finnish), and South Asian populations. Multiple functional studies have shown the p.Glu285Ala mutation to cause loss of ASPA enzymatic activity (Hershfield_2007_PMID: 17391648; Mendes_2017_PMID: 28101991). The p.Glu285 residue is conserved across mammals and other organisms, and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, and MutationTaster) suggest that the variant impacts the protein. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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Pathogenic
(Mar 17, 2017)
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no assertion criteria provided
Method: clinical testing
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Canavan Disease
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV002093215.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
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Likely pathogenic
(Jan 06, 2020)
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no assertion criteria provided
Method: curation
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Canavan Disease
Affected status: unknown
Allele origin:
germline
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Reproductive Health Research and Development, BGI Genomics
Accession: SCV001142466.1
First in ClinVar: Jan 12, 2020 Last updated: Jan 12, 2020 |
Comment:
NM_000049.2:c.854A>C in the ASPA gene has an allele frequency of 0.009 in Ashkenazi Jewish subpopulation in the gnomAD database. Functional studies demonstrate that c.854A>C has … (more)
NM_000049.2:c.854A>C in the ASPA gene has an allele frequency of 0.009 in Ashkenazi Jewish subpopulation in the gnomAD database. Functional studies demonstrate that c.854A>C has disturbed the active site architecture, leading to altered substrate binding and lower catalytic activity (PMID: 25003821). Elpeleg et al reported that 18 patients with canavan disease, who are homozygous for this variant (PMID: 8037206). Pathogenic computational verdict because pathogenic predictions from DANN, DEOGEN2, EIGEN, FATHMM-MKL, M-CAP, MVP, MutationAssessor, MutationTaster, PrimateAI, REVEL and SIFT. Taken together, we interprete this variant as a Pathogenic/Likely pathogenic. ACMG/AMP criteria applied: PS3; PM3; PP3; PP4. (less)
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not provided
(-)
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no classification provided
Method: literature only
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Spongy degeneration of central nervous system
Affected status: unknown
Allele origin:
germline
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GeneReviews
Accession: SCV003761560.2
First in ClinVar: Feb 13, 2023 Last updated: Nov 11, 2023 |
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not provided
(-)
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no classification provided
Method: phenotyping only
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Spongy degeneration of central nervous system
Affected status: unknown
Allele origin:
paternal
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GenomeConnect, ClinGen
Accession: SCV002074875.1
First in ClinVar: Feb 13, 2022 Last updated: Feb 13, 2022 |
Comment:
Variant interpreted as Pathogenic and reported on 02-10-2017 by Lab or GTR ID 1006. GenomeConnect assertions are reported exactly as they appear on the patient-provided … (more)
Variant interpreted as Pathogenic and reported on 02-10-2017 by Lab or GTR ID 1006. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. (less)
Clinical Features:
Abnormality of the amniotic fluid (present) , Abnormality of eye movement (present) , Hypermetropia (present) , Abnormality of the nervous system (present) , Cognitive impairment … (more)
Abnormality of the amniotic fluid (present) , Abnormality of eye movement (present) , Hypermetropia (present) , Abnormality of the nervous system (present) , Cognitive impairment (present) , Abnormality of coordination (present) , Generalized hypotonia (present) , Abnormality of facial musculature (present) , Abnormal muscle physiology (present) , Abnormality of the musculature of the limbs (present) , Abnormality of the musculature (present) , Abnormal morphology of the pelvis musculature (present) (less)
Indication for testing: Diagnostic
Age: 0-9 years
Sex: male
Testing laboratory: Baylor Genetics
Date variant was reported to submitter: 2017-02-10
Testing laboratory interpretation: Pathogenic
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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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Canavan Disease. | Adam MP | - | 2023 | PMID: 20301412 |
The natural history of Canavan disease: 23 new cases and comparison with patients from literature. | Bley A | Orphanet journal of rare diseases | 2021 | PMID: 34011350 |
Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective. | Wijayasinghe YS | Biochemistry | 2014 | PMID: 25003821 |
Relationship between enzyme properties and disease progression in Canavan disease. | Zano S | Journal of inherited metabolic disease | 2013 | PMID: 22850825 |
Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease. | Kaul R | American journal of human genetics | 1996 | PMID: 8659549 |
The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel. | Elpeleg ON | American journal of human genetics | 1994 | PMID: 8037206 |
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. | Kaul R | Nature genetics | 1993 | PMID: 8252036 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ASPA | - | - | - | - |
Text-mined citations for rs28940279 ...
HelpRecord last updated Nov 10, 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.