ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met) (rs369768947)

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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 RCV000036147 SCV000059799 uncertain significance not specified 2018-10-30 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Val1491Met va riant in MYO7A has been reported by our laboratory in 1 individual with hearing loss. It has also been identified in 0.11% (39/35372) of Latino chromosomes by g nomAD (http://gnomad.broadinstitute.org). Computational prediction tools and con servation analysis do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the p.Val1491Met varian t is uncertain, its frequency suggests it is more likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting.

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