ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.127C>T (p.Pro43Ser)

gnomAD frequency: 0.00004  dbSNP: rs370771519
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001991042 SCV002261435 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MPDZ-related conditions. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1479819). This variant is present in population databases (rs370771519, gnomAD 0.008%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 43 of the MPDZ protein (p.Pro43Ser).

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.