ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4808_4809delinsCT (p.His1603Pro)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.