ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1165C>T (rs151001642)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596838 SCV000705004 pathogenic not provided 2017-01-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041126 SCV000064817 pathogenic Rare genetic deafness 2013-09-05 criteria provided, single submitter clinical testing The Arg389X variant in TMC1 has been reported in several individual with hearing loss (Hilgert 2008, Meyer 2005, Tlili 2008). All of these individuals were eith er homozygous or compound heterozygous and this variant segregated with hearing loss in several families. This nonsense variant leads to a premature termination codon at position 389, which is predicted to lead to a truncated or absent prot ein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).

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