ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.4648G>C (p.Glu1550Gln)

dbSNP: rs2154016099
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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 RCV001364614 SCV001560771 uncertain significance Long QT syndrome 2020-08-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 1550 of the ANK2 protein (p.Glu1550Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. 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 conditions. This variant is not present in population databases (ExAC no frequency).

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