ClinVar Miner

Submissions for variant NM_006618.5(KDM5B):c.202C>A (p.Pro68Thr)

gnomAD frequency: 0.00009  dbSNP: rs369444528
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 RCV001048854 SCV001212879 uncertain significance not provided 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 68 of the KDM5B protein (p.Pro68Thr). This variant is present in population databases (rs369444528, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of KDM5B-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 845733). 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 tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002479297 SCV002792936 uncertain significance Intellectual disability, autosomal recessive 65 2021-07-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553588 SCV004747166 uncertain significance KDM5B-related disorder 2023-10-23 no assertion criteria provided clinical testing The KDM5B c.202C>A variant is predicted to result in the amino acid substitution p.Pro68Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0052% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-202777232-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.