ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1903T>C (p.Cys635Arg) (rs797044514)

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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 RCV000155931 SCV000205643 uncertain significance not specified 2013-08-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Cys635Arg v ariant in MYO7A has not been reported in individuals with hearing loss and is ab sent from large population studies. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Cy s635Arg variant may impact the protein, particularly in light of the alteration of a Cysteine residue which is more likely to affect protein structure. In summa ry, the clinical significance of this variant cannot be determined with certaint y; however based upon the computational data and absence in the general populati on, we would lean towards a more likely pathogenic role.

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