ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7187T>A (p.Val2396Glu)

gnomAD frequency: 0.00001  dbSNP: rs754410472
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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 RCV001927802 SCV002174762 uncertain significance Cohen syndrome 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 2421 of the VPS13B protein (p.Val2421Glu). This variant is present in population databases (rs754410472, gnomAD 0.003%). 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: 1404676). 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.
PreventionGenetics, part of Exact Sciences RCV003923357 SCV004738675 uncertain significance VPS13B-related disorder 2023-12-27 no assertion criteria provided clinical testing The VPS13B c.7187T>A variant is predicted to result in the amino acid substitution p.Val2396Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% 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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