ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.557C>G (p.Ala186Gly) (rs727504470)

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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 RCV000155596 SCV000205304 uncertain significance not specified 2013-05-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala186Gly varia nt in TMC1 has not been reported in individuals affected with hearing loss or in large population studies. Computational analyses (biochemical amino acid proper ties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong suppor t for or against an impact to the protein. In summary, additional information is needed to assess the clinical significance of this variant.

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