Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001383846 | SCV001583152 | pathogenic | Fanconi anemia | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp1365Profs*26) 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). This variant is present in population databases (rs748930384, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with ovarian and/or breast cancer (PMID: 31300551). ClinVar contains an entry for this variant (Variation ID: 929605). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002497677 | SCV002813967 | likely pathogenic | Fanconi anemia complementation group P | 2022-04-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001194852 | SCV003805908 | likely pathogenic | not provided | 2022-01-10 | criteria provided, single submitter | clinical testing | Frameshift 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; Identified in individuals with a personal history of breast cancer, one of which also had a personal history of ovarian cancer and also harbored a pathogenic PALB2 variant (Fostira 2020); This variant is associated with the following publications: (PMID: 31300551, 34308104) |
Ce |
RCV001194852 | SCV004144897 | likely pathogenic | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | SLX4: PVS1 |
Leiden Open Variation Database | RCV001194852 | SCV001364685 | pathogenic | not provided | 2019-12-23 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Florentia Fostira. |