Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV002276393 | SCV002563304 | likely pathogenic | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003096207 | SCV003284020 | pathogenic | Fanconi anemia | 2022-10-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1701275). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser795*) in the SLX4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLX4 are known to be pathogenic (PMID: 21240277). |
Gene |
RCV002276393 | SCV005442956 | likely pathogenic | not provided | 2024-07-02 | criteria provided, single submitter | clinical testing | Identified in individuals with cancer (including ovarian cancer, neuroblastoma, and colorectal cancer) from case control studies, but detailed clinical information and familial segregation were not provided (PMID: 29478780, 32546565, 34308104); 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: 32546565, 34308104, 29478780) |