ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.3340dup (p.Ala1114fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Bochum, Ruhr University Bochum RCV002463869 SCV002758644 likely pathogenic Hearing impairment 2022-01-04 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM2_SUP
Labcorp Genetics (formerly Invitae), Labcorp RCV005098424 SCV005835010 pathogenic not provided 2024-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1114Glyfs*5) in the MYO6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO6 are known to be pathogenic (PMID: 12687499, 18348273, 23767834, 25999546, 30582396). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hearing loss (PMID: 23208854). ClinVar contains an entry for this variant (Variation ID: 1801710). For these reasons, this variant has been classified as Pathogenic.

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