ClinVar Miner

Submissions for variant NM_152468.5(TMC8):c.70G>A (p.Ala24Thr)

dbSNP: rs2074972673
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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 RCV001970993 SCV002258449 uncertain significance Epidermodysplasia verruciformis 2021-07-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 24 of the TMC8 protein (p.Ala24Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. 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. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with TMC8-related conditions.

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