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NM_000157.4(GBA):c.1060G>C (p.Asp354His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Dec 28, 2020)
Last evaluated:
Oct 15, 2018
Accession:
VCV000093444.5
Variation ID:
93444
Description:
single nucleotide variant
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NM_000157.4(GBA):c.1060G>C (p.Asp354His)

Allele ID
99351
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q22
Genomic location
1: 155236409 (GRCh38) GRCh38 UCSC
1: 155206200 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P04062:p.Asp354His
NC_000001.10:g.155206200C>G
NC_000001.11:g.155236409C>G
... more HGVS
Protein change
D354H, D267H, D305H
Other names
-
Canonical SPDI
NC_000001.11:155236408:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: P04062#VAR_003292
dbSNP: rs398123526
ClinGen: CA221379
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 13, 2013 RCV000180536.1
Uncertain significance 1 criteria provided, single submitter Oct 15, 2018 RCV000781410.1
Uncertain significance 2 no assertion criteria provided Sep 16, 2020 RCV001248921.2
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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
15 247
LOC106627981 - - - GRCh38
GRCh38
- 223

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 15, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919417.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: GBA c.1060G>C (p.Asp354His) results in a non-conservative amino acid change located in the Glycosyl hydrolase family 30, TIM-barrel domain of the encoded protein … (more)
Pathogenic
(Aug 13, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000232998.5
Submitted: (Jun 30, 2017)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 15, 2020)
no assertion criteria provided
Method: curation
Gaucher disease
(Autosomal recessive inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV001422686.1
Submitted: (Mar 09, 2020)
Evidence details
Publications
PubMed (1)
Other databases
https://erepo.clinicalgenome.org…
Comment:
The p.Asp354His variant in GBA has been reported in one Ashkenazi Jewish individual with Gaucher disease (PMID: 8547070) and has been identified in 0.003% (3/113764) … (more)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Gaucher disease
Allele origin: germline
Natera, Inc.
Accession: SCV001461742.1
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
Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D). Walley AJ British journal of haematology 1995 PMID: 8547070
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GBA - - - -
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/ca9e1678-03fb-4534-952d-af111fe69831 - - - -

Text-mined citations for rs398123526...

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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 18, 2021