Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV003151658 | SCV003840066 | uncertain significance | not specified | 2022-09-07 | no assertion criteria provided | clinical testing | DNA sequence analysis of the SLX4 gene demonstrated a deletion and insertion of two base pairs in exon 14, c.4808_4809delinsCT. This in-frame deletion/insertion is predicted to result in a missense change, p.His1603Pro. This sequence change does not appear to have been previously described in individuals with SLX4-related disorders and has also not been described in population databases such as ExAC and gnomAD. The p.His1603Pro change affects a highly conserved amino acid residue located in a domain of the XRCC2 protein that is not known to be functional. The p.His1603Pro substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD). Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.His1603Pro change remains unknown at this time. |