ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1369T>C (p.Phe457Leu) (rs397517836)

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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 RCV000041128 SCV000064819 uncertain significance not specified 2011-08-01 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Phe457Leu varia nt in TMC1 has not been reported in the literature nor previously identified by our laboratory. Computational analyses (PolyPhen2, SIFT, AlignGVGD) provide inco nsistent predictions on the pathogenicity of this variant. In summary, the clini cal significance of this variant cannot be determined with certainty at this tim e.

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