ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2852G>T (p.Gly951Val)

dbSNP: rs770406179
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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) RCV000176105 SCV000227703 uncertain significance not provided 2015-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001324818 SCV001515784 uncertain significance Cohen syndrome 2022-08-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. 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: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 195520). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 951 of the VPS13B protein (p.Gly951Val).
Natera, Inc. RCV001324818 SCV002079536 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing

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