ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3850G>T (p.Val1284Leu)

dbSNP: rs373107728
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001980084 SCV002223992 uncertain significance Fanconi anemia 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 1284 of the SLX4 protein (p.Val1284Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225757 SCV003807378 uncertain significance Fanconi anemia complementation group P 2023-01-13 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, BP4 supporting

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.