ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10441T>C (p.Cys3481Arg)

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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 RCV002933089 SCV003262962 uncertain significance Cohen syndrome 2022-05-21 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 3506 of the VPS13B protein (p.Cys3506Arg). This variant is present in population databases (rs373773690, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004966186 SCV005531697 uncertain significance Inborn genetic diseases 2024-08-21 criteria provided, single submitter clinical testing The c.10516T>C (p.C3506R) alteration is located in exon 56 (coding exon 55) of the VPS13B gene. This alteration results from a T to C substitution at nucleotide position 10516, causing the cysteine (C) at amino acid position 3506 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004744483 SCV005360247 uncertain significance VPS13B-related disorder 2024-09-24 no assertion criteria provided clinical testing The VPS13B c.10441T>C variant is predicted to result in the amino acid substitution p.Cys3481Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0098% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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