ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7964C>T (p.Ser2655Leu)

gnomAD frequency: 0.00007  dbSNP: rs373153154
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539884 SCV000627672 uncertain significance Long QT syndrome 2024-04-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2655 of the ANK2 protein (p.Ser2655Leu). This variant is present in population databases (rs373153154, gnomAD 0.02%). 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: 457056). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000998281 SCV001713316 uncertain significance not provided 2020-06-08 criteria provided, single submitter clinical testing
GeneDx RCV000998281 SCV001782490 uncertain significance not provided 2020-07-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002420360 SCV002678015 likely benign Cardiovascular phenotype 2018-10-01 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.

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