ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.10646G>A (p.Arg3549His)

gnomAD frequency: 0.00002  dbSNP: rs768351547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813554 SCV000953918 uncertain significance Long QT syndrome 2018-12-25 criteria provided, single submitter clinical testing 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ANK2-related conditions. This variant is present in population databases (rs768351547, ExAC 0.01%). This sequence change replaces arginine with histidine at codon 3549 of the ANK2 protein (p.Arg3549His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine.
Ambry Genetics RCV002406840 SCV002712649 benign Cardiovascular phenotype 2021-10-21 criteria provided, single submitter clinical testing This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987711 SCV004803578 uncertain significance not specified 2024-01-22 criteria provided, single submitter clinical testing

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