ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.1125del (p.Cys375fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002947380 SCV003266248 pathogenic not provided 2021-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys375Trpfs*14) 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 variant has not been reported in the literature in individuals affected with MYO6-related conditions. For these reasons, this variant has been classified as Pathogenic.

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