ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11099G>A (p.Arg3700Gln)

dbSNP: rs750753561
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221227 SCV001393255 uncertain significance Cohen syndrome 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 3725 of the VPS13B protein (p.Arg3725Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 949707). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt VPS13B protein function with a positive predictive value of 80%. 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 RCV002563015 SCV003587806 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.11174G>A (p.R3725Q) alteration is located in exon 58 (coding exon 57) of the VPS13B gene. This alteration results from a G to A substitution at nucleotide position 11174, causing the arginine (R) at amino acid position 3725 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001221227 SCV002082782 uncertain significance Cohen syndrome 2021-08-02 no assertion criteria provided clinical testing

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