ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1829_1832dup (p.Ser611_Ser612insTer)

dbSNP: rs2135406725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001962515 SCV002211552 pathogenic not provided 2023-07-15 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: 1434715). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser612*) 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).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004546689 SCV005043149 pathogenic Usher syndrome type 1 2024-05-10 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004571655 SCV005051870 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2 2024-02-01 criteria provided, single submitter curation

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