ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10852G>A (p.Ala3618Thr)

gnomAD frequency: 0.00001  dbSNP: rs373605057
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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 RCV001298312 SCV001487360 uncertain significance Cohen syndrome 2022-02-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1001953). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is present in population databases (rs373605057, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3643 of the VPS13B protein (p.Ala3643Thr). 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. 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").
PreventionGenetics, part of Exact Sciences RCV004727095 SCV005338048 uncertain significance VPS13B-related disorder 2024-05-01 no assertion criteria provided clinical testing The VPS13B c.10852G>A variant is predicted to result in the amino acid substitution p.Ala3618Thr. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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