ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7532G>A (p.Arg2511Gln)

gnomAD frequency: 0.00001  dbSNP: rs142684331
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Total submissions: 3
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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 RCV000171603 SCV000050641 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV002390409 SCV002675145 likely benign Cardiovascular phenotype 2019-03-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002515243 SCV002938107 uncertain significance Long QT syndrome 2021-12-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs142684331, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 191411). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2511 of the ANK2 protein (p.Arg2511Gln).

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