ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.791C>T (p.Thr264Met)

gnomAD frequency: 0.00001  dbSNP: rs561482424
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367460 SCV001563810 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 264 of the MKS1 protein (p.Thr264Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs561482424, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with MKS1-related conditions. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
New York Genome Center RCV003227968 SCV003925199 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2022-06-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831275 SCV002087649 uncertain significance Meckel syndrome, type 1 2020-09-08 no assertion criteria provided 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.