ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1369G>A (p.Ala457Thr)

gnomAD frequency: 0.00001  dbSNP: rs782255256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001761463 SCV002000890 uncertain significance not provided 2023-10-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34824372)
Human Genetics Bochum, Ruhr University Bochum RCV003886525 SCV004704496 uncertain significance Autosomal dominant nonsyndromic hearing loss 11 2023-05-05 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PM1, PP3_MOD

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