ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.2804C>G (p.Thr935Ser)

dbSNP: rs2153837127
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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 RCV001877364 SCV002140414 uncertain significance Long QT syndrome 2021-10-14 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with ANK2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 935 of the ANK2 protein (p.Thr935Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine.

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