ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter)

dbSNP: rs773945008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667049 SCV000791440 pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855473 SCV002230101 pathogenic not provided 2021-09-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 551885). This premature translational stop signal has been observed in individual(s) with Usher Syndrome (PMID: 24618850). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp2107*) 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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