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NM_000169.3(GLA):c.926C>T (p.Ala309Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Mar 5, 2019)
Last evaluated:
Sep 16, 2018
Accession:
VCV000217401.3
Variation ID:
217401
Description:
single nucleotide variant
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NM_000169.3(GLA):c.926C>T (p.Ala309Val)

Allele ID
214025
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq22.1
Genomic location
X: 101398443 (GRCh38) GRCh38 UCSC
X: 100653431 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P06280:p.Ala309Val
NM_000169.2:c.926C>T NP_000160.1:p.Ala309Val missense
LRG_672:g.14521C>T
... more HGVS
Protein change
A309V
Other names
-
Canonical SPDI
NC_000023.11:101398442:G:A
Functional consequence
effect on protein activity [Variation Ontology VariO:0053]
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA353336
UniProtKB: P06280#VAR_077406
dbSNP: rs869312155
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Sep 16, 2018 RCV000414172.2
drug response 1 no assertion criteria provided Jan 1, 2014 RCV000209717.1
Uncertain significance 1 no assertion criteria provided Jan 1, 2014 RCV000209571.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GLA Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
29 898
RPL36A-HNRNPH2 - - - GRCh38
GRCh37
- 889

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 18, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000491848.1
Submitted: (Jan 29, 2019)
Evidence details
Comment:
A variant of uncertain significance has been identified in the GLA gene. While the A309V variant has not been published in association with cardiomyopathy, it … (more)
Uncertain significance
(Sep 16, 2018)
criteria provided, single submitter
Method: research
not provided
Allele origin: germline
Gharavi Laboratory,Columbia University
Accession: SCV000920680.1
Submitted: (Mar 05, 2019)
Evidence details
Uncertain significance
(Jan 01, 2014)
no assertion criteria provided
Method: research
Fabry's disease
Allele origin: inherited
Albrecht-Kossel-Institute,Medical University Rostock
Accession: SCV000246079.1
Submitted: (Sep 23, 2015)
Evidence details
Publications
PubMed (1)
drug response
Pharmacological Chaperone response: no
(Jan 01, 2014)
no assertion criteria provided
Method: research
deoxygalactonojirimycin response
Drug used for Fabry disease
Allele origin: inherited
Albrecht-Kossel-Institute,Medical University Rostock
Accession: SCV000246080.1
Submitted: (Sep 23, 2015)
Evidence details
Publications
PubMed (1)

Functional evidence

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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 this variant

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Title Author Journal Year Link
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. Lukas J Human mutation 2016 PMID: 26415523

Text-mined citations for rs869312155...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 20, 2021