ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3559G>A (p.Val1187Ile)

gnomAD frequency: 0.00011  dbSNP: rs151247807
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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) RCV000734272 SCV000862398 uncertain significance not provided 2018-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001042782 SCV001206485 uncertain significance Cohen syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1187 of the VPS13B protein (p.Val1187Ile). This variant is present in population databases (rs151247807, gnomAD 0.05%). 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: 597994). 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. RCV001042782 SCV002082518 uncertain significance Cohen syndrome 2019-11-11 no assertion criteria provided clinical testing

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