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NM_000169.2(GLA):c.239G>A (p.Gly80Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 9, 2020
Accession:
VCV000217380.8
Variation ID:
217380
Description:
single nucleotide variant
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NM_000169.2(GLA):c.239G>A (p.Gly80Asp)

Allele ID
214046
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq22.1
Genomic location
X: 101403941 (GRCh38) GRCh38 UCSC
X: 100658929 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.100658929C>T
NC_000023.11:g.101403941C>T
NM_000169.2:c.239G>A NP_000160.1:p.Gly80Asp missense
... more HGVS
Protein change
G80D
Other names
-
Canonical SPDI
NC_000023.11:101403940:C:T
Functional consequence
effect on protein activity [Variation Ontology VariO:0053]
Global minor allele frequency (GMAF)
0.00026 (T)

Allele frequency
1000 Genomes Project 0.00026
Links
ClinGen: CA089420
UniProtKB: P06280#VAR_077378
dbSNP: rs781838005
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, single submitter Oct 9, 2020 RCV000209421.8
Uncertain significance 1 criteria provided, single submitter Mar 29, 2018 RCV000732705.1
Uncertain significance 1 criteria provided, single submitter Nov 22, 2019 RCV000993846.1
drug response 1 no assertion criteria provided Jan 1, 2014 RCV000209815.1
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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
11 860
RPL36A-HNRNPH2 - - - GRCh38
GRCh37
- 865

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 29, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000860685.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Nov 22, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919435.3
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: GLA c.239G>A (p.Gly80Asp) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging … (more)
Uncertain significance
(Oct 09, 2020)
criteria provided, single submitter
Method: clinical testing
Fabry disease
Allele origin: germline
Invitae
Accession: SCV000748699.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces glycine with aspartic acid at codon 80 of the GLA protein (p.Gly80Asp). The glycine residue is highly conserved and there is … (more)
Likely pathogenic
(Jan 01, 2014)
no assertion criteria provided
Method: research
Fabry's disease
Allele origin: inherited
Albrecht-Kossel-Institute,Medical University Rostock
Accession: SCV000246033.1
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: SCV000246034.1
Submitted: (Sep 23, 2015)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Fabry disease
Allele origin: germline
Natera, Inc.
Accession: SCV001458762.1
Submitted: (Dec 28, 2020)
Evidence details

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
Prevalence of Fabry disease in male dialysis patients: Argentinean screening study. Frabasil J JIMD reports 2019 PMID: 31392112
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants. Wasserstein MP Genetics in medicine : official journal of the American College of Medical Genetics 2019 PMID: 30093709
Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths. Lin Y Circulation. Cardiovascular genetics 2017 PMID: 29247119
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
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. Lukas J Human mutation 2016 PMID: 26415523
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GLA - - - -

Text-mined citations for rs781838005...

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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 Jun 14, 2021