ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1567-14T>G (rs727503485)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000766065 SCV000897527 uncertain significance Deafness, autosomal recessive 7; Deafness, autosomal dominant 36 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152040 SCV000200627 uncertain significance not specified 2015-05-03 criteria provided, single submitter clinical testing The c.1576-14T>G variant in TMC1 has been identified by our laboratory in 1 indi vidual with sensorineural hearing loss who carried a second, pathogenic TMC1 var iant in trans. However, this individual also carried a likely pathogenic variant in another gene, which was consistent with their clinical features and family h istory and is likely to be the explanation for their hearing loss. The c.1576-14 T>G variant has also been identified in 5/66740 European chromosomes by the Exom e Aggregation Consortium (ExAC, http://exac.broadinstitute.org). The variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing; however, this information is not predictive enough to rule out pathog enicity. In summary, the clinical significance of the c.1576-14T>G variant is un certain.

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