ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.604G>T (p.Val202Phe)

gnomAD frequency: 0.00003  dbSNP: rs759411797
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001339961 SCV001533746 uncertain significance Cohen syndrome 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 202 of the VPS13B protein (p.Val202Phe). This variant is present in population databases (rs759411797, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1036891). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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.
Genetic Services Laboratory, University of Chicago RCV001820037 SCV002065698 uncertain significance not specified 2018-09-12 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261346 SCV002540960 uncertain significance not provided 2021-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546887 SCV003606995 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The c.604G>T (p.V202F) alteration is located in exon 6 (coding exon 5) of the VPS13B gene. This alteration results from a G to T substitution at nucleotide position 604, causing the valine (V) at amino acid position 202 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001339961 SCV002079441 uncertain significance Cohen syndrome 2020-07-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004743413 SCV005346081 uncertain significance VPS13B-related disorder 2024-04-16 no assertion criteria provided clinical testing The VPS13B c.604G>T variant is predicted to result in the amino acid substitution p.Val202Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.