Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989494 | SCV001139907 | likely pathogenic | Fanconi anemia complementation group A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
DASA | RCV002307648 | SCV002600245 | likely pathogenic | Fanconi anemia complementation group P | 2022-11-03 | criteria provided, single submitter | clinical testing | The c.4088C>A;p.(Ser1363*) variant creates a premature translational stop signal in the SLX4 gene. It is expected to result in an absent or disrupted protein product - PVS1.This variant is not present in population databases (rs1596520443, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is likely pathogenic. |
Invitae | RCV002550612 | SCV003514536 | pathogenic | Fanconi anemia | 2022-05-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser1363*) 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). ClinVar contains an entry for this variant (Variation ID: 803196). 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). |