Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008648 | SCV001168423 | pathogenic | not provided | 2019-02-08 | criteria provided, single submitter | clinical testing | The S955X nonsense variant has been reported previously in association with Usher syndrome and hearing loss (Besnard et al., 2014; Sommen et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret this variant as pathogenic. |
Invitae | RCV001008648 | SCV001380062 | pathogenic | not provided | 2023-11-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser955*) in the ADGRV1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADGRV1 are known to be pathogenic (PMID: 19357117, 22135276, 22147658, 26226137, 30718709, 31047384, 32467589). This variant is present in population databases (rs746618021, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Usher syndrome or nonsyndromic hearing loss (PMID: 24498627, 27068579). ClinVar contains an entry for this variant (Variation ID: 817512). For these reasons, this variant has been classified as Pathogenic. |
Ophthalmic Genetics Group, |
RCV003324548 | SCV004030359 | pathogenic | Usher syndrome | 2023-07-24 | criteria provided, single submitter | research | Clinical significance based on ACMG v2.0 |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001008648 | SCV001959464 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001008648 | SCV001974678 | pathogenic | not provided | no assertion criteria provided | clinical testing |