Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002541164 | SCV003270527 | pathogenic | Fanconi anemia | 2023-03-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val1641Glyfs*15) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1323618). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs770425994, gnomAD 0.02%). |
Neuberg Centre For Genomic Medicine, |
RCV003339740 | SCV004047204 | uncertain significance | Fanconi anemia complementation group P | criteria provided, single submitter | clinical testing | The frameshift variant c.4921dup (p.Val1641GlyfsTer15) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.003%) in the gnomAD and novel in 1000 genome database. Since this variant is present in the penultimate exon functional studies will be required to prove protein truncation. Hence the variant is classified as Uncertain Significance. |