ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4254del (p.Asp1419fs)

dbSNP: rs1555096070
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667646 SCV000792130 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-06-19 criteria provided, single submitter clinical testing
Invitae RCV001237674 SCV001410446 pathogenic not provided 2023-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1419Thrfs*7) 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 individuals with Usher syndrome (PMID: 26338283). This variant is also known as c.4251delC (p.I1417fs). ClinVar contains an entry for this variant (Variation ID: 552398). For these reasons, this variant has been classified as Pathogenic.

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