ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys)

dbSNP: rs746291728
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986798 SCV001135930 pathogenic Retinitis pigmentosa 38 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001389819 SCV001591304 pathogenic not provided 2024-12-24 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 844 of the MERTK protein (p.Arg844Cys). This variant is present in population databases (rs746291728, gnomAD 0.002%). This missense change has been observed in individual(s) with autosomal recessive inherited retinal dystrophy (PMID: 15111602, 28462455). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 801738). 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) indicates that this missense variant is expected to disrupt MERTK protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects MERTK function (PMID: 15111602). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001389819 SCV002822682 pathogenic not provided 2022-12-01 criteria provided, single submitter clinical testing MERTK: PM3:Strong, PM2, PM5, PP4, PS3:Supporting
Baylor Genetics RCV000986798 SCV003835812 pathogenic Retinitis pigmentosa 38 2022-10-27 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818093 SCV005072556 pathogenic Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing

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.