ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.250C>A (p.Leu84Met)

dbSNP: rs2153389915
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001971898 SCV002205285 uncertain significance Long QT syndrome 2021-07-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ANK2-related conditions. This sequence change replaces leucine with methionine at codon 84 of the ANK2 protein (p.Leu84Met). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and methionine. This variant is not present in population databases (ExAC no frequency). 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.

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