Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001243157 | SCV001416294 | pathogenic | not provided | 2023-12-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg736*) 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). This variant is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 17407589). ClinVar contains an entry for this variant (Variation ID: 693998). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003473524 | SCV004210617 | pathogenic | Pituitary adenoma 5, multiple types | 2023-09-17 | criteria provided, single submitter | clinical testing | |
Department of biochemistry and genetics, |
RCV000855416 | SCV000996525 | pathogenic | Usher syndrome type 1D | 2019-10-24 | no assertion criteria provided | clinical testing | We identified a mutation in c.2206C>T (NM_001171931.1), p.Arg736Ter (NP_071407.4) in the two homozygous brothers with hearing loss and RP. |
Natera, |
RCV001825705 | SCV002085550 | pathogenic | Usher syndrome type 1 | 2021-07-21 | no assertion criteria provided | clinical testing |