ClinVar Miner

Submissions for variant NM_001127198.5(TMC6):c.280C>T (p.Arg94Ter)

gnomAD frequency: 0.00001  dbSNP: rs121908327
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512791 SCV003515305 pathogenic Epidermodysplasia verruciformis 2023-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg94*) in the TMC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMC6 are known to be pathogenic (PMID: 15042430, 17139267). This variant is present in population databases (rs121908327, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. This premature translational stop signal has been observed in individual(s) with epidermodysplasia verruciformis (PMID: 12426567). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 4748). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004719623 SCV005325226 pathogenic not provided 2023-11-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 36705400, 18158319, 12426567)
OMIM RCV000005014 SCV000025190 risk factor Epidermodysplasia verruciformis, susceptibility to, 1 2002-12-01 no assertion criteria provided literature only

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