ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1224+5G>A (rs397517835)

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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 RCV000041127 SCV000064818 uncertain significance not specified 2013-02-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The 1224+5G>A v ariant in TMC1 has not been reported in the literature nor previously identified by our laboratory. This variant is located in the 5' splice region. Computation al tools suggest that the variant may result in a possible impact to splicing an d the guanine (G) nucleotide at that position is well conserved across mammals a nd distant species. However, this information is not predictive enough to rule o ut pathogenicity. In summary, the clinical significance of this variant cannot b e determined with certainty; however based upon the computational analyses and t he conservation data, we would lean towards a more likely pathogenic role

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