ClinVar Miner

Submissions for variant NM_001127198.5(TMC6):c.1219C>T (p.Arg407Trp)

gnomAD frequency: 0.00001  dbSNP: rs368793235
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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 RCV002233182 SCV000816722 uncertain significance Epidermodysplasia verruciformis 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 407 of the TMC6 protein (p.Arg407Trp). This variant is present in population databases (rs368793235, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TMC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 568657). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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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