ClinVar Miner

Submissions for variant NM_152468.5(TMC8):c.47_48insCTG (p.Pro16_Glu17insTrp)

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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 RCV002712157 SCV003016610 uncertain significance Epidermodysplasia verruciformis 2023-10-13 criteria provided, single submitter clinical testing This variant, c.47_48insCTG, results in the insertion of 1 amino acid(s) of the TMC8 protein (p.Pro16_Glu17insTrp), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TMC8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1968918). 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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