ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.9755T>G (p.Met3252Arg)

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
Molecular Genetics, Royal Melbourne Hospital RCV003994649 SCV004812412 uncertain significance Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 2022-04-01 criteria provided, single submitter clinical testing This sequence change in VPS13D is predicted to replace methionine with arginine at codon 3252, p.(Met3252Arg). The methionine residue is highly conserved (100 vertebrates, UCSC), and is not in an annotated functional domain. There is a moderate physicochemical difference between methionine and arginine. This variant is absent from gnomAD v2,1 and v3.1. To our knowledge, this variant has not been reported in the literature in any individuals with VPS13D-releated disease. Multiple lines of computational evidence predict a deleterious effect for the missense substitution (3/4 algorithms). Based on the classification scheme RMH Modified ACMG Guidelines v1.5.1, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PM2_Supporting, PP3.

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.