ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11885C>A (p.Pro3962His)

dbSNP: rs531619892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000154135 SCV000203799 uncertain significance not provided 2014-03-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001324253 SCV001515201 uncertain significance Cohen syndrome 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 3987 of the VPS13B protein (p.Pro3987His). This variant is present in population databases (rs531619892, gnomAD 0.004%). 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: 167838). 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.
Natera, Inc. RCV001324253 SCV002085001 uncertain significance Cohen syndrome 2019-11-11 no assertion criteria provided clinical testing

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