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NM_000157.4(GBA):c.509G>T (p.Arg170Leu)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
3 (Most recent: Mar 9, 2020)
Last evaluated:
Jan 13, 2020
Accession:
VCV000004329.3
Variation ID:
4329
Description:
single nucleotide variant
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NM_000157.4(GBA):c.509G>T (p.Arg170Leu)

Allele ID
19368
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q22
Genomic location
1: 155238596 (GRCh38) GRCh38 UCSC
1: 155208387 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.155208387C>A
NC_000001.11:g.155238596C>A
NG_009783.1:g.11102G>T
... more HGVS
Protein change
R170L, R121L, R83L
Other names
R131L
Canonical SPDI
NC_000001.11:155238595:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA253112
UniProtKB: P04062#VAR_009036
OMIM: 606463.0042
dbSNP: rs80356763
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Mar 1, 2000 RCV000004574.3
Pathogenic/Likely pathogenic 2 no assertion criteria provided Jan 13, 2020 RCV000020155.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GBA - - GRCh38
GRCh38
GRCh37
15 248
LOC106627981 - - - GRCh38
GRCh38
- 224

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 01, 2000)
no assertion criteria provided
Method: literature only
GAUCHER DISEASE, PERINATAL LETHAL
Allele origin: germline
OMIM
Accession: SCV000024748.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Jan 13, 2020)
no assertion criteria provided
Method: curation
Gaucher disease
(Autosomal recessive inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV001422953.1
Submitted: (Mar 09, 2020)
Evidence details
Publications
PubMed (1)
Other databases
https://erepo.clinicalgenome.org…
Comment:
The p.Arg170Leu variant in GBA has been reported in 2 individuals with Gaucher disease, segregated with disease in 2 affected relatives from 1 family (PMID: … (more)
pathologic
(Feb 01, 2011)
no assertion criteria provided
Method: curation
Gaucher Disease
Allele origin: not provided
GeneReviews
Accession: SCV000040482.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.

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
Gaucher Disease Pastores GM - 2018 PMID: 20301446
Type 2 Gaucher disease: the collodion baby phenotype revisited. Stone DL Archives of disease in childhood. Fetal and neonatal edition 2000 PMID: 10685993
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/17173a9f-deaa-41f7-af54-173a4d50cc30 - - - -

Text-mined citations for rs80356763...

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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 Sep 29, 2021