ClinVar Miner

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

gnomAD frequency: 0.00015  dbSNP: rs369768947
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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.
Invitae RCV001241478 SCV001414500 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001241478 SCV001778363 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001826548 SCV002088458 uncertain significance Usher syndrome type 1B 2019-11-11 no assertion criteria provided clinical testing

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