ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8983C>A (p.Pro2995Thr)

dbSNP: rs1180231209
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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 RCV001240197 SCV001413122 uncertain significance Cohen syndrome 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 3020 of the VPS13B protein (p.Pro3020Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (no rsID available, 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: 965686). 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.
Natera, Inc. RCV001240197 SCV002082693 uncertain significance Cohen syndrome 2020-03-11 no assertion criteria provided clinical testing

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