Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000169.3(GLA):c.484T>C (p.Trp162Arg)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 29, 2018)
Last evaluated:
Jul 2, 2018
Accession:
VCV000010728.1
Variation ID:
10728
Description:
single nucleotide variant
Help

NM_000169.3(GLA):c.484T>C (p.Trp162Arg)

Allele ID
25767
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq22.1
Genomic location
X: 101401695 (GRCh38) GRCh38 UCSC
X: 100656683 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P06280:p.Trp162Arg
LRG_672:g.11269T>C
LRG_672t1:c.484T>C LRG_672p1:p.Trp162Arg
... more HGVS
Protein change
W162R
Other names
-
Canonical SPDI
NC_000023.11:101401694:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA021748
UniProtKB: P06280#VAR_000458
OMIM: 300644.0016
dbSNP: rs28935196
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Jul 2, 2018 RCV000011475.3
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 02, 2018)
criteria provided, single submitter
Method: clinical testing
Fabry disease
Allele origin: germline
Invitae
Accession: SCV000828383.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces tryptophan with arginine at codon 162 of the GLA protein (p.Trp162Arg). The tryptophan residue is highly conserved and there is a … (more)
Pathogenic
(Dec 01, 1993)
no assertion criteria provided
Method: literature only
FABRY DISEASE
Allele origin: germline
OMIM
Accession: SCV000031707.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease. Wu X Human mutation 2011 PMID: 21598360
Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. Kotanko P Journal of the American Society of Nephrology : JASN 2004 PMID: 15100373
Anderson-Fabry disease in Austria. Lorenz M Wiener klinische Wochenschrift 2003 PMID: 12778775
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Eng CM American journal of human genetics 1993 PMID: 7504405

Text-mined citations for rs28935196...

Help
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 Dec 04, 2021