ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.352G>T (p.Glu118Ter)

gnomAD frequency: 0.00001  dbSNP: rs1439351996
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526646 SCV001737077 pathogenic Hearing impairment criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771625 SCV004696688 pathogenic not provided 2023-09-06 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1172665). This variant has not been reported in the literature in individuals affected with TMC1-related conditions. This sequence change creates a premature translational stop signal (p.Glu118*) in the TMC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMC1 are known to be pathogenic (PMID: 11850618, 22105175).

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