ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5543del (p.Asn1848fs)

dbSNP: rs1555105202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671898 SCV000796931 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2018-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531299 SCV002934594 pathogenic not provided 2024-04-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1848Thrfs*31) 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 variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 555973). For these reasons, this variant has been classified as Pathogenic.

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