ClinVar Miner

Submissions for variant NM_152468.5(TMC8):c.1128-2A>G

gnomAD frequency: 0.00001  dbSNP: rs761256523
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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 RCV001236391 SCV001409114 likely pathogenic Epidermodysplasia verruciformis 2019-11-12 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TMC8 are known to be pathogenic (PMID: 12426567, 22158547). This variant has not been reported in the literature in individuals with TMC8-related conditions. This variant is present in population databases (rs761256523, ExAC 0.009%). This sequence change affects an acceptor splice site in intron 9 of the TMC8 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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