Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668959 | SCV000793643 | likely pathogenic | Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A | 2017-08-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855510 | SCV002114339 | pathogenic | not provided | 2022-11-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 553492). Disruption of this splice site has been observed in individual(s) with Usher syndrome (PMID: 12107438; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 8 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). |
Baylor Genetics | RCV003459604 | SCV004207651 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18A | 2023-07-24 | criteria provided, single submitter | clinical testing |