Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003522921 | SCV004319087 | pathogenic | Fanconi anemia | 2023-06-15 | 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: 31022). This premature translational stop signal has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 21240277). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln365Serfs*32) 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 | RCV000024015 | SCV000045306 | pathogenic | Fanconi anemia complementation group P | 2011-02-01 | no assertion criteria provided | literature only | |
Leiden Open Variation Database | RCV000024015 | SCV001364650 | pathogenic | Fanconi anemia complementation group P | 2011-02-22 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |