ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter)

gnomAD frequency: 0.00001  dbSNP: rs1279918132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664644 SCV000788643 pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861737 SCV002229106 pathogenic not provided 2024-06-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln821*) 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 premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 12112664). ClinVar contains an entry for this variant (Variation ID: 550026). For these reasons, this variant has been classified as Pathogenic.

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