Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670894 | SCV000795807 | likely pathogenic | Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A | 2017-11-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001232682 | SCV001405249 | pathogenic | not provided | 2023-07-21 | 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: 555137). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. This variant is present in population databases (rs758555088, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ile476Asnfs*11) in the USH1C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349). |
Preventiongenetics, |
RCV003403559 | SCV004120863 | pathogenic | USH1C-related condition | 2022-09-11 | criteria provided, single submitter | clinical testing | The USH1C c.2326dupA variant is predicted to result in a frameshift and premature protein termination (p.Ile776Asnfs*11). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-17522651-A-AT). Frameshift variants in USH1C are expected to be pathogenic. This variant is interpreted as pathogenic. |
Baylor Genetics | RCV003459620 | SCV004207662 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18A | 2023-05-17 | criteria provided, single submitter | clinical testing |