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NM_181703.4(GJA5):c.377C>T (p.Pro126Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Apr 27, 2017
Accession:
VCV000876989.1
Variation ID:
876989
Description:
single nucleotide variant
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NM_181703.4(GJA5):c.377C>T (p.Pro126Leu)

Allele ID
862180
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q21.2
Genomic location
1: 147758862 (GRCh38) GRCh38 UCSC
1: 147230970 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.147230970G>A
NC_000001.11:g.147758862G>A
NG_009369.2:g.19513C>T
... more HGVS
Protein change
P126L
Other names
-
Canonical SPDI
NC_000001.11:147758861:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Apr 27, 2017 RCV001102339.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJA5 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
104 376

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 11
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001259009.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)

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
Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. Gollob MH The New England journal of medicine 2006 PMID: 16790700

Record last updated Oct 08, 2021