ClinVar Miner

Submissions for variant NM_152468.5(TMC8):c.25T>C (p.Ser9Pro)

gnomAD frequency: 0.00006  dbSNP: rs779748966
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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 RCV002235411 SCV000962317 uncertain significance Epidermodysplasia verruciformis 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 9 of the TMC8 protein (p.Ser9Pro). This variant is present in population databases (rs779748966, gnomAD 0.008%). 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. ClinVar contains an entry for this variant (Variation ID: 663641). This variant has not been reported in the literature in individuals affected with TMC8-related conditions.

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