ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln) (rs199918940)

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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 RCV000613382 SCV000711158 uncertain significance not specified 2017-03-20 criteria provided, single submitter clinical testing The p.Leu1179Gln variant in MYO7A has not been previously reported in individual s with hearing loss, but was identified in 0.1% (4/6610) of Finnish chromosomes and 30/66136 European chromosomes by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs199918940). Although this variant has been seen in the general population, its frequency is not high enough to rule out a p athogenic role. Computational prediction tools and conservation analysis suggest that the variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, the clinical significance of the p.Leu1179Gln variant is uncertain.

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