ClinVar Miner

Submissions for variant NM_001127198.5(TMC6):c.1702G>C (p.Glu568Gln)

dbSNP: rs2074369239
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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 RCV001210413 SCV001381898 uncertain significance Epidermodysplasia verruciformis 2019-07-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 568 of the TMC6 protein (p.Glu568Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TMC6-related conditions. 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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