ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1824del (p.Pro609fs)

gnomAD frequency: 0.00001  dbSNP: rs1389725640
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674234 SCV000799536 uncertain significance Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2018-04-24 criteria provided, single submitter clinical testing
GeneDx RCV005051813 SCV005685720 likely pathogenic not provided 2024-07-26 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Reported previously in an unaffected carrier; however, no further information was provided (PMID: 31964843); Reported using an alternate transcript of the gene; This variant is associated with the following publications: (PMID: 31964843)

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