ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.8918T>G (p.Val2973Gly)

gnomAD frequency: 0.00005  dbSNP: rs142302291
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471954 SCV000545149 uncertain significance Long QT syndrome 2022-07-25 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 406477). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. This variant is present in population databases (rs142302291, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 2973 of the ANK2 protein (p.Val2973Gly).
GeneDx RCV000498983 SCV000589923 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ANKD2 gene. The V2973G variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 8/66724 (0.01%) alleles from individuals of European ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; Exome Variant Server). The V2973G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function.
Ambry Genetics RCV002374762 SCV002685574 likely benign Cardiovascular phenotype 2018-09-20 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.
Fulgent Genetics, Fulgent Genetics RCV002481404 SCV002800126 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2021-08-18 criteria provided, single submitter clinical testing

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