ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro) (rs397516310)

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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 RCV000036143 SCV000059795 likely pathogenic Rare genetic deafness 2012-03-13 criteria provided, single submitter clinical testing The Ser1471Pro variant in MYO7A has not been reported in the literature and was absent from >8,000 European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). However, it has previously been identified in trans with a pathogenic allele in two siblings with Usher Syndrome by our laboratory. In summary, this variant is likely patho genic, though additional studies are required to fully establish its clinical si gnificance.

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