Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000039314 | SCV000062998 | pathogenic | Rare genetic deafness | 2012-05-08 | criteria provided, single submitter | clinical testing | The Ile3210Argfs variant in CDH23 has not been reported in the literature. The v ariant is predicted to alter the protein?s amino acid sequence beginning at posi tion 3210 and lead to a premature termination codon 5 amino acids downstream. Th is alteration is then predicted to lead to a truncated or absent protein. In sum mary, this variant meets our criteria to be classified as pathogenic. |
| Gene |
RCV001009201 | SCV001169020 | pathogenic | not provided | 2019-02-25 | criteria provided, single submitter | clinical testing | The c.9629_9632delTCAA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). It causes a frameshift starting with codon Isoleucine 3210, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Ile3210ArgfsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret this variant as pathogenic. |
| Baylor Genetics | RCV003473287 | SCV004210636 | pathogenic | Pituitary adenoma 5, multiple types | 2023-08-14 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001009201 | SCV004613625 | pathogenic | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile3210Argfs*5) 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 (rs397517367, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 33111992). ClinVar contains an entry for this variant (Variation ID: 46077). For these reasons, this variant has been classified as Pathogenic. |
| Natera, |
RCV001831682 | SCV002086309 | pathogenic | Usher syndrome type 1 | 2021-02-11 | no assertion criteria provided | clinical testing |