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NM_000169.2(GLA):c.361G>A (p.Ala121Thr)

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Interpretation:
Uncertain significance, drug response​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Sep 23, 2015)
Last evaluated:
Jan 1, 2014
Accession:
VCV000217384.1
Variation ID:
217384
Description:
single nucleotide variant
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NM_000169.2(GLA):c.361G>A (p.Ala121Thr)

Allele ID
214042
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq22.1
Genomic location
X: 101403819 (GRCh38) GRCh38 UCSC
X: 100658807 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.100658807C>T
NC_000023.11:g.101403819C>T
NM_000169.2:c.361G>A NP_000160.1:p.Ala121Thr missense
... more HGVS
Protein change
A121T
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
UniProtKB: P06280#VAR_077382
dbSNP: rs782197638
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided Jan 1, 2014 RCV000209198.1
drug response 1 no assertion criteria provided Jan 1, 2014 RCV000209589.1
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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
17 600
RPL36A-HNRNPH2 - - - GRCh38
GRCh37
- 589

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 01, 2014)
no assertion criteria provided
Method: research
Fabry's disease
Allele origin: inherited
Albrecht-Kossel-Institute,Medical University Rostock
Accession: SCV000246041.1
Submitted: (Sep 23, 2015)
Evidence details
Publications
PubMed (1)
drug response
Pharmacological Chaperone response: yes
(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: SCV000246042.1
Submitted: (Sep 23, 2015)
Evidence details
Publications
PubMed (1)

Citations for this variant

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

Record last updated Oct 11, 2019