ClinVar Miner

Submissions for variant NM_001127198.5(TMC6):c.947A>T (p.Asn316Ile)

gnomAD frequency: 0.00001  dbSNP: rs746517168
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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 RCV001221857 SCV001393924 uncertain significance Epidermodysplasia verruciformis 2019-05-06 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TMC6-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces asparagine with isoleucine at codon 316 of the TMC6 protein (p.Asn316Ile). The asparagine residue is weakly conserved and there is a large physicochemical difference between asparagine and isoleucine.

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