Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760396 | SCV000890269 | pathogenic | not provided | 2018-07-23 | criteria provided, single submitter | clinical testing | The R2935X nonsense variant has been reported previously in association with Usher syndrome (Reddy et al., 2014). 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 in large population cohorts (Lek et al., 2016). We consider this variant to be pathogenic. |
Blueprint Genetics | RCV001075279 | SCV001240894 | pathogenic | Retinal dystrophy | 2017-09-26 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000760396 | SCV002016988 | pathogenic | not provided | 2021-06-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000760396 | SCV002242999 | pathogenic | not provided | 2023-10-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg2935*) in the CDH23 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 25211151). ClinVar contains an entry for this variant (Variation ID: 620124). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003472282 | SCV004210638 | pathogenic | Pituitary adenoma 5, multiple types | 2023-08-13 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276921 | SCV001463578 | pathogenic | Usher syndrome type 1 | 2020-09-16 | no assertion criteria provided | clinical testing |