ClinVar Miner

Submissions for variant NM_152468.5(TMC8):c.35C>T (p.Ala12Val)

gnomAD frequency: 0.00006  dbSNP: rs748499539
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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 RCV002234394 SCV000751715 uncertain significance Epidermodysplasia verruciformis 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 12 of the TMC8 protein (p.Ala12Val). This variant is present in population databases (rs748499539, gnomAD 0.09%). 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: 526242). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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