ClinVar Miner

Submissions for variant NM_005709.4(USH1C):c.1211-3_1232del

gnomAD frequency: 0.00001  dbSNP: rs1246699436
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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 RCV001376838 SCV001574011 likely pathogenic not provided 2024-11-18 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 15 (c.1211-3_1232del) of the USH1C gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 1065977). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV003462942 SCV004207631 likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A 2023-10-17 flagged submission clinical testing

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