ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.269G>A (p.Arg90His)

gnomAD frequency: 0.00003  dbSNP: rs200886866
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001213586 SCV001385222 uncertain significance Thrombophilia due to protein S deficiency, autosomal recessive 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 90 of the PROS1 protein (p.Arg90His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs200886866, ExAC 0.01%). This missense change has been observed in individual(s) with protein S deficiency (PMID: 7803790). This variant is also known as R49H. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change does not substantially affect PROS1 function (PMID: 10613646). 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.

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.