ClinVar Miner

Submissions for variant NM_006245.4(PPP2R5D):c.1563G>T (p.Met521Ile)

dbSNP: rs2150283609
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 RCV001870920 SCV002132224 uncertain significance not provided 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 521 of the PPP2R5D protein (p.Met521Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PPP2R5D-related conditions. ClinVar contains an entry for this variant (Variation ID: 1370053). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Ambry Genetics RCV003164200 SCV003904155 uncertain significance Inborn genetic diseases 2023-02-16 criteria provided, single submitter clinical testing The c.1563G>T (p.M521I) alteration is located in exon 15 (coding exon 15) of the PPP2R5D gene. This alteration results from a G to T substitution at nucleotide position 1563, causing the methionine (M) at amino acid position 521 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.