ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.10097C>A (p.Thr3366Asn)

gnomAD frequency: 0.00002  dbSNP: rs560594488
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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 RCV001965000 SCV002208097 uncertain significance Long QT syndrome 2020-12-15 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ANK2-related conditions. This variant is present in population databases (rs560594488, ExAC 0.01%). This sequence change replaces threonine with asparagine at codon 3366 of the ANK2 protein (p.Thr3366Asn). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and asparagine.

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