Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Molecular Genetics, |
RCV001352978 | SCV001548061 | likely pathogenic | Cone dystrophy with supernormal rod response | 2021-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002548491 | SCV003518701 | pathogenic | not provided | 2022-10-05 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1048137). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the KCNV2 protein in which other variant(s) (p.Leu469Trpfs*35) have been determined to be pathogenic (PMID: 18400204). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with KCNV2-related conditions (PMID: 33546218). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val366Trpfs*88) in the KCNV2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 180 amino acid(s) of the KCNV2 protein. |