ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7436A>G (p.Lys2479Arg)

gnomAD frequency: 0.00013  dbSNP: rs201619005
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171602 SCV000050636 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000602182 SCV000728191 likely benign not specified 2018-03-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002381549 SCV002672572 likely benign Cardiovascular phenotype 2022-03-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV002516559 SCV003261916 likely benign Long QT syndrome 2023-12-11 criteria provided, single submitter clinical testing

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