ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7648G>A (p.Gly2550Arg)

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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 RCV002895684 SCV003250379 uncertain significance Cohen syndrome 2022-05-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2575 of the VPS13B protein (p.Gly2575Arg). This variant is present in population databases (rs780332587, gnomAD 0.003%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; 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.
GeneDx RCV003152807 SCV003842175 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004066089 SCV004976269 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.7723G>A (p.G2575R) alteration is located in exon 42 (coding exon 41) of the VPS13B gene. This alteration results from a G to A substitution at nucleotide position 7723, causing the glycine (G) at amino acid position 2575 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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