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NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 24, 2021)
Last evaluated:
Dec 14, 2020
Accession:
VCV000016990.5
Variation ID:
16990
Description:
single nucleotide variant
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NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln)

Allele ID
32029
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q22.31
Genomic location
6: 121447932 (GRCh38) GRCh38 UCSC
6: 121769078 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1289:g.17334G>A
LRG_1289t1:c.1085G>A LRG_1289p1:p.Arg362Gln
P17302:p.Arg362Gln
... more HGVS
Protein change
R362Q
Other names
-
Canonical SPDI
NC_000006.12:121447931:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00025
Trans-Omics for Precision Medicine (TOPMed) 0.00018
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00022
The Genome Aggregation Database (gnomAD), exomes 0.00042
Links
ClinGen: CA215135
UniProtKB: P17302#VAR_032924
OMIM: 121014.0011
dbSNP: rs2227885
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 14, 2020 RCV000444307.5
Likely benign 1 criteria provided, single submitter Dec 31, 2019 RCV001089368.1
Pathogenic 1 no assertion criteria provided Aug 8, 2001 RCV000018511.28
Pathogenic 1 no assertion criteria provided Aug 8, 2001 RCV000018512.28
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJA1 No evidence available No evidence available GRCh38
GRCh37
145 161

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Oculodentodigital dysplasia, autosomal recessive
Allele origin: germline
Invitae
Accession: SCV001002194.2
Submitted: (Jan 29, 2020)
Evidence details
Uncertain significance
(Dec 14, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000518409.4
Submitted: (Sep 24, 2021)
Evidence details
Comment:
Published previously in the presence of a second GJA1 variant, in association with hypoplastic left heart syndrome in several unrelated individuals (Dasgupta et al., 2001); … (more)
Pathogenic
(Aug 08, 2001)
no assertion criteria provided
Method: literature only
ATRIOVENTRICULAR SEPTAL DEFECT 3
Allele origin: germline
OMIM
Accession: SCV000038794.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(Aug 08, 2001)
no assertion criteria provided
Method: literature only
HYPOPLASTIC LEFT HEART SYNDROME 1
Allele origin: germline
OMIM
Accession: SCV000038793.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Dasgupta C Mutation research 2001 PMID: 11470490

Text-mined citations for rs2227885...

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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 Oct 08, 2021