Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485254 | SCV000572539 | likely pathogenic | not provided | 2021-05-19 | criteria provided, single submitter | clinical testing | Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both in silico predictors and evolutionary conservation support a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001054464 | SCV001218778 | pathogenic | Leber congenital amaurosis 7; Cone-rod dystrophy 2 | 2023-12-17 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 2 of the CRX gene. It does not directly change the encoded amino acid sequence of the CRX protein. It affects a nucleotide within the consensus splice site. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has been observed in individuals with clinical features of autosomal dominant CRX-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 422939). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). For these reasons, this variant has been classified as Pathogenic. |