ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.224dup (p.Asp75fs)

gnomAD frequency: 0.00001  dbSNP: rs1224819887
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668615 SCV000793248 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV001383044 SCV001582056 pathogenic not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp75Glufs*65) 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 present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of Usher syndrome (PMID: 26969326). ClinVar contains an entry for this variant (Variation ID: 553215). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001383044 SCV004025778 pathogenic not provided 2023-02-09 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26969326, 33089500)
Revvity Omics, Revvity Omics RCV001383044 SCV004237041 pathogenic not provided 2023-02-10 criteria provided, single submitter clinical testing

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