ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8728G>A (p.Glu2910Lys)

gnomAD frequency: 0.00012  dbSNP: rs143787982
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817691 SCV002072254 uncertain significance not specified 2017-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869781 SCV002111681 uncertain significance Cohen syndrome 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 2935 of the VPS13B protein (p.Glu2935Lys). This variant is present in population databases (rs143787982, gnomAD 0.03%). 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: 1338320). 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: "Benign"; 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 RCV003407829 SCV004114966 uncertain significance VPS13B-related disorder 2024-08-07 no assertion criteria provided clinical testing The VPS13B c.8728G>A variant is predicted to result in the amino acid substitution p.Glu2910Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.032% of alleles in individuals of African 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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