ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.8363C>G (p.Pro2788Arg)

dbSNP: rs868755481
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330668 SCV001522417 uncertain significance Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 2019-11-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546404 SCV003492562 uncertain significance not provided 2022-05-30 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1029396). This variant has not been reported in the literature in individuals affected with VPS13D-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2788 of the VPS13D protein (p.Pro2788Arg).
Ambry Genetics RCV002546405 SCV003753249 uncertain significance Inborn genetic diseases 2024-12-10 criteria provided, single submitter clinical testing The c.8363C>G (p.P2788R) alteration is located in exon 38 (coding exon 37) of the VPS13D gene. This alteration results from a C to G substitution at nucleotide position 8363, causing the proline (P) at amino acid position 2788 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV002546404 SCV005186473 uncertain significance not provided criteria provided, single submitter not provided

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.