ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala) (rs369916141)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665699 SCV000789862 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-02-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036043 SCV000059695 uncertain significance not specified 2017-06-23 criteria provided, single submitter clinical testing The p.Val411Ala variant in MYO7A has been reported in 1 individual with autosoma l recessive hearing loss and 1 individual with unilateral hearing loss, however a second variant in MYO7A was not detected in either individual (Kothiyal 2010, LMM unpublished data, ClinVar Variation ID 43139). In addition, the variant was reported in 1 individual with autosomal dominant retinitis pigmentosa, however t his individual carried another variant that was more likely responsible for the disease (Sujirakul 2015). This variant has also been identified in 4/34106 Latin o chromosomes and 3/23546 African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs369916141); however this fre quency is not high enough to rule out a pathogenic role. Computational predictio n tools and conservation analysis suggest that the variant may impact the protei n, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Val411Ala variant is uncertain.

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