ClinVar Miner

Submissions for variant NM_152468.5(TMC8):c.-20_7del (p.Met1_Leu3del)

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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 RCV002785601 SCV003028261 uncertain significance Epidermodysplasia verruciformis 2022-05-13 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the TMC8 mRNA. The next in-frame methionine is located at codon 26. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TMC8-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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