ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.890T>C (p.Ile297Thr)

gnomAD frequency: 0.00001  dbSNP: rs147704542
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001312663 SCV001503126 uncertain significance Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2022-05-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 297 of the MKKS protein (p.Ile297Thr). This variant is present in population databases (rs147704542, gnomAD 0.006%). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 20177705, 30718709). ClinVar contains an entry for this variant (Variation ID: 636042). 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. 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.
Baylor Genetics RCV003472325 SCV004194901 pathogenic Bardet-Biedl syndrome 6 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005029449 SCV005663386 uncertain significance McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2024-06-10 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787622 SCV000926606 uncertain significance Bardet-Biedl syndrome 2018-04-01 no assertion criteria provided research

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.