ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.791G>C (p.Arg264Pro) (rs147147941)

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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 RCV000041148 SCV000064839 uncertain significance not specified 2011-04-15 criteria provided, single submitter clinical testing The Arg264Pro variant in TMC1 has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, homology, PolyPhen2, SIFT, AlignGVGD) do not provide strong suppor t for or against pathogenicity. In summary, the clinical significance of this va riant cannot be determined with certainty at this time.

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