ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.1117C>T (p.Arg373Cys)

gnomAD frequency: 0.00006  dbSNP: rs374588624
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 RCV002031318 SCV002313578 uncertain significance Familial hemophagocytic lymphohistiocytosis 2 2024-09-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 373 of the PRF1 protein (p.Arg373Cys). This variant is present in population databases (rs374588624, gnomAD 0.01%). This missense change has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 17627755). ClinVar contains an entry for this variant (Variation ID: 1523906). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PRF1 protein function. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004793714 SCV005411036 uncertain significance not provided 2023-12-19 criteria provided, single submitter clinical testing PM3_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.