Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV000024018 | SCV002803463 | pathogenic | Fanconi anemia complementation group P | 2022-04-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513216 | SCV003308943 | pathogenic | Fanconi anemia | 2022-03-06 | 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: 31025). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 21240275). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu172Phefs*22) 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). |
OMIM | RCV000024018 | SCV000045309 | pathogenic | Fanconi anemia complementation group P | 2011-02-01 | no assertion criteria provided | literature only | |
Leiden Open Variation Database | RCV000024018 | SCV001364638 | pathogenic | Fanconi anemia complementation group P | 2011-02-10 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |