Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760396 | SCV000890269 | pathogenic | not provided | 2024-05-17 | criteria provided, single submitter | clinical testing | Identified in patients with bilateral sensorineural hearing loss referred for genetic testing at GeneDx and in published literature; patients were younger than the expected age of onset for visual symptoms of Usher syndrome (PMID: 35020051); Nonsense variant predicted to result in protein truncation or nonsense mediated decay 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: 21689626, 11750125, 25211151, 35020051) |
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 | |
Labcorp Genetics |
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 |