ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.1574C>T (p.Ala525Val)

dbSNP: rs1198719430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694408 SCV000822853 uncertain significance Long QT syndrome 2021-04-07 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ANK2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 525 of the ANK2 protein (p.Ala525Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
GeneDx RCV002285400 SCV002575883 uncertain significance not provided 2022-03-26 criteria provided, single submitter clinical testing Reported in individuals with a neurodevelopmental disorder in the published literature, however, detailed clinical information was not provided (Wang et al., 2020; Guo et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32821428, 33004838, 30564305)

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