ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6178A>G (p.Met2060Val)

gnomAD frequency: 0.00001  dbSNP: rs200711677
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313617 SCV000848759 uncertain significance Inborn genetic diseases 2017-01-16 criteria provided, single submitter clinical testing The p.M2085V variant (also known as c.6253A>G), located in coding exon 35 of the VPS13B gene, results from an A to G substitution at nucleotide position 6253. The methionine at codon 2085 is replaced by valine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001055868 SCV001220282 uncertain significance Cohen syndrome 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2085 of the VPS13B protein (p.Met2085Val). This variant is present in population databases (rs200711677, gnomAD 0.007%). 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: 588679). 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. RCV001055868 SCV002082601 uncertain significance Cohen syndrome 2020-12-02 no assertion criteria provided clinical testing

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