ClinVar Miner

Submissions for variant NM_000234.3(LIG1):c.1922G>T (p.Arg641Leu)

gnomAD frequency: 0.00002  dbSNP: rs34087182
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 RCV002543278 SCV003473208 uncertain significance not provided 2022-03-25 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects LIG1 function (PMID: 30395541, 32914844, 33444456, 33600799). 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 disruptive. This missense change has been observed in individuals with DNA ligase I deficiency (PMID: 30395541). This variant is present in population databases (rs34087182, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 641 of the LIG1 protein (p.Arg641Leu).
OMIM RCV001843698 SCV002102820 pathogenic Immunodeficiency 96 2022-03-07 no assertion criteria provided literature only

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.