ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1617C>G (p.Ile539Met) (rs782450807)

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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 RCV000608125 SCV000731516 uncertain significance not specified 2017-03-20 criteria provided, single submitter clinical testing p.Ile539Met, c.1617C>G (MYO7A; NM_000260.3; Chr11g.76873961C>G; GRCh37): The p.I le539Met variant in MYO7A has not been previously reported in individuals with h earing loss, but was identified in 1/8618 East Asian chromosomes by the Exome Ag gregation Consortium (ExAC,; dbSNP rs782450807). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools an d conservation analysis do not provide strong support for or against an impact t o the protein. In summary, the clinical significance of the p.Ile539Met variant is uncertain.

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