ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) (rs397516323)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675068 SCV000800545 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-06-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036203 SCV000059855 likely pathogenic Rare genetic deafness 2010-08-16 no assertion criteria provided clinical testing The Leu1935Pro variant in MYO7A has not been reported in the literature. This re sidue is conserved across species and computational analyses (PolyPhen, SIFT) su ggest that the Leu1935Pro variant may impact the protein. This variant was detec ted in a patient in combination with a reported pathogenic variant increasing th e likelihood that the Leu1935Pro variant is pathogenic. In summary, this variant is likely to be pathogenic.

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