ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2797C>G (p.Gln933Glu)

gnomAD frequency: 0.00001  dbSNP: rs773412105
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002005051 SCV002248256 uncertain significance Cohen syndrome 2022-05-25 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 933 of the VPS13B protein (p.Gln933Glu). This variant is present in population databases (rs773412105, 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: "Possibly 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.
Ambry Genetics RCV004970681 SCV005531722 uncertain significance Inborn genetic diseases 2024-10-06 criteria provided, single submitter clinical testing The c.2797C>G (p.Q933E) alteration is located in exon 19 (coding exon 18) of the VPS13B gene. This alteration results from a C to G substitution at nucleotide position 2797, causing the glutamine (Q) at amino acid position 933 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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