ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1404+4A>G (rs727503484)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152039 SCV000200625 uncertain significance not specified 2014-07-24 criteria provided, single submitter clinical testing The c.1404+4A>G variant in TMC1 has not been previously reported in individuals with hearing loss and was absent from large population studies. This variant is located in the 5' splice region and the adenine (A) base at position 1404+4 is h ighly conserved in mammals and across evolutionary distant species. Computationa l tools do not suggest an impact to splicing, though this information is not pre dictive enough to rule out pathogenicity. In summary, additional information is needed to fully assess the clinical significance of this variant.

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