ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.4173_4174del (p.His1391fs)

dbSNP: rs768570132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002620378 SCV003505507 pathogenic not provided 2022-05-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MYO3A-related conditions. This variant is present in population databases (rs768570132, gnomAD 0.04%). This sequence change creates a premature translational stop signal (p.His1391Glnfs*10) in the MYO3A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO3A are known to be pathogenic (PMID: 12032315, 23990876).
GeneDx RCV002620378 SCV005334750 uncertain significance not provided 2023-05-17 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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