ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4065del (p.His1355fs)

gnomAD frequency: 0.00001  dbSNP: rs111033202
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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 RCV000036136 SCV000059788 likely pathogenic Rare genetic deafness 2008-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003556113 SCV004294146 pathogenic not provided 2023-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His1355Glnfs*44) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive Usher syndrome (PMID: 21873662, 29142287). ClinVar contains an entry for this variant (Variation ID: 43232). For these reasons, this variant has been classified as Pathogenic.

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