ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1012C>T (p.Pro338Ser)

gnomAD frequency: 0.00001  dbSNP: rs755505551
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 RCV002003495 SCV002268437 uncertain significance Intellectual disability, autosomal dominant 1 2021-04-09 criteria provided, single submitter clinical testing 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MBD5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 338 of the MBD5 protein (p.Pro338Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.
GeneDx RCV004591688 SCV005078233 uncertain significance not provided 2023-10-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.