ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3878_3879del (p.Leu1293fs)

dbSNP: rs760251968
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004382 SCV001163351 pathogenic Usher syndrome type 1 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558636 SCV004294143 pathogenic not provided 2023-01-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 813431). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with autosomal recessive Usher syndrome (PMID: 27460420, 31479088). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu1293Glnfs*14) 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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