ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.760-1G>T

gnomAD frequency: 0.00004  dbSNP: rs1187887456
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669103 SCV000793808 likely pathogenic Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005091939 SCV005795065 likely pathogenic not provided 2024-03-10 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 9 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 present in population databases (no rsID available, gnomAD 0.007%). 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: 553618). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV003459605 SCV004207663 likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A 2023-05-15 flagged submission clinical testing

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