ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val) (rs782465732)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666203 SCV000790456 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-03-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213823 SCV000272159 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Leu1151Val va riant in MYO7A has been reported in trans with a likely pathogenic variant in on e individual with hearing loss and one unaffected sibling. This variant has been identified in 1/24050 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Although this variant has been seen in t he general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that the p.Leu1151Val variant may impact the protein, though this information is not pre dictive enough to determine pathogenicity. While the clinical significance of th e p.Leu1151Val variant is uncertain, it is likely to be benign because it is lik ely in trans with a likely pathogenic variant in MYO7 in a reportedly unaffected individual.

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