ClinVar Miner

Submissions for variant NM_152468.5(TMC8):c.268C>T (p.Leu90Phe)

gnomAD frequency: 0.00009  dbSNP: rs1222174878
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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 RCV002233862 SCV000933413 uncertain significance Epidermodysplasia verruciformis 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 90 of the TMC8 protein (p.Leu90Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with TMC8-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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