ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5185A>G (p.Met1729Val)

dbSNP: rs1825837144
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001210800 SCV001382306 uncertain significance Cohen syndrome 2022-11-01 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 1754 of the VPS13B protein (p.Met1754Val). This variant is not present in population databases (gnomAD no frequency). 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: 941086). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt VPS13B protein function. 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.
Ambry Genetics RCV002339545 SCV002643843 uncertain significance Inborn genetic diseases 2019-02-19 criteria provided, single submitter clinical testing The p.M1754V variant (also known as c.5260A>G), located in coding exon 32 of the VPS13B gene, results from an A to G substitution at nucleotide position 5260. The methionine at codon 1754 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in other 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.
Natera, Inc. RCV001210800 SCV002082568 uncertain significance Cohen syndrome 2021-06-23 no assertion criteria provided clinical testing

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