ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3543_3544dup (p.Asn1182fs)

dbSNP: rs111033390
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Total submissions: 2
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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 RCV000036115 SCV000059767 likely pathogenic Rare genetic deafness 2008-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001219969 SCV001391937 pathogenic not provided 2023-07-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 43211). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn1182Thrfs*51) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053).

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