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NM_000165.5(GJA1):c.1128G>A (p.Arg376=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 29, 2021)
Last evaluated:
Aug 28, 2020
Accession:
VCV000355163.6
Variation ID:
355163
Description:
single nucleotide variant
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NM_000165.5(GJA1):c.1128G>A (p.Arg376=)

Allele ID
305822
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q22.31
Genomic location
6: 121447975 (GRCh38) GRCh38 UCSC
6: 121769121 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1289:g.17377G>A
NC_000006.11:g.121769121G>A
NC_000006.12:g.121447975G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:121447974:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00063
The Genome Aggregation Database (gnomAD) 0.00032
The Genome Aggregation Database (gnomAD) 0.00051
Trans-Omics for Precision Medicine (TOPMed) 0.00065
The Genome Aggregation Database (gnomAD), exomes 0.00043
Exome Aggregation Consortium (ExAC) 0.00045
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
Links
ClinGen: CA3981829
dbSNP: rs145215218
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 Jan 12, 2018 RCV000259758.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000322881.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000373116.2
Likely benign 1 criteria provided, single submitter Aug 28, 2020 RCV000827825.4
Likely benign 1 criteria provided, single submitter Dec 31, 2019 RCV001088161.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJA1 No evidence available No evidence available GRCh38
GRCh37
153 169

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Syndactyly type 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459835.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Oculodentodigital dysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459836.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Hypoplastic left heart syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459837.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Oculodentodigital dysplasia, autosomal recessive
Allele origin: germline
Invitae
Accession: SCV000557984.4
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Aug 28, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000969486.2
Submitted: (Sep 29, 2021)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs145215218...

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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 Nov 27, 2021