Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673343 | SCV000798532 | likely pathogenic | Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A | 2018-03-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001377936 | SCV001575392 | pathogenic | not provided | 2023-02-07 | criteria provided, single submitter | clinical testing | This variant results in the deletion of part of exon 9 (c.748_759+5del) 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 been observed in individuals with Usher syndrome (PMID: 17407589, 28041643). ClinVar contains an entry for this variant (Variation ID: 437936). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001377936 | SCV004023869 | pathogenic | not provided | 2023-02-17 | 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); This variant is associated with the following publications: (PMID: 32581362, 28041643, 17407589) |
NIHR Bioresource Rare Diseases, |
RCV000504842 | SCV000598664 | likely pathogenic | Usher syndrome | 2015-01-01 | no assertion criteria provided | research |