Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000630869 | SCV000751840 | pathogenic | Fanconi anemia | 2022-12-04 | 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: 526348). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs760126773, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg713*) 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). |
Baylor Genetics | RCV001788304 | SCV002030142 | pathogenic | Fanconi anemia complementation group P | 2021-07-23 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Center for Genomics, |
RCV001788304 | SCV002495965 | likely pathogenic | Fanconi anemia complementation group P | 2021-11-03 | criteria provided, single submitter | clinical testing | SLX4 NM_032444.2 exon 10 p.Arg713* (c.2137C>T): This variant has not been reported in the literature is association with SLX4-related disease, but is present in 0.001% (1/68026) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-3594476-G-A?dataset=gnomad_r3). Please note, disease causing variants may be present in control databases at low frequencies, reflective of the general population, carrier status, and/or variable expressivity. This variant is present in ClinVar (Variation ID:526348). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant creates a premature stop at this codon which results in an absent or abnormal protein. Loss of function variants have been reported in association with disease for this gene (Stoepker 2011 PMID:21240277). In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic. |
Gene |
RCV003126875 | SCV003803475 | likely pathogenic | not provided | 2022-08-15 | criteria provided, single submitter | clinical testing | 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; Observed in 1/5951 cases and 1/6115 controls in an ovarian cancer study (Song et al., 2021); This variant is associated with the following publications: (PMID: 26689913, 32546565) |