ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4398G>A (p.Trp1466Ter)

dbSNP: rs1956759935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217557 SCV001389403 pathogenic not provided 2023-04-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 946651). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Usher syndrome type I (PMID: 25252889). It has also been observed to segregate with disease in related individuals. This sequence change creates a premature translational stop signal (p.Trp1466*) 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).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV005225319 SCV005871603 pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3_Strong+PP1

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