ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6631A>C (p.Ile2211Leu)

gnomAD frequency: 0.00004  dbSNP: rs369932118
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723721 SCV000113844 uncertain significance not provided 2013-08-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081909 SCV000597886 uncertain significance not specified 2016-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001244755 SCV001417999 uncertain significance Cohen syndrome 2022-04-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2236 of the VPS13B protein (p.Ile2236Leu). This variant is present in population databases (rs369932118, 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: 95862). 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.
GeneDx RCV000723721 SCV001998094 uncertain significance not provided 2019-10-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV004678607 SCV005174706 uncertain significance Inborn genetic diseases 2024-04-04 criteria provided, single submitter clinical testing The c.6706A>C (p.I2236L) alteration is located in exon 37 (coding exon 36) of the VPS13B gene. This alteration results from a A to C substitution at nucleotide position 6706, causing the isoleucine (I) at amino acid position 2236 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001244755 SCV002082618 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003415849 SCV004108744 uncertain significance VPS13B-related disorder 2024-02-05 no assertion criteria provided clinical testing The VPS13B c.6631A>C variant is predicted to result in the amino acid substitution p.Ile2211Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0044% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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