ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5489C>G (p.Ala1830Gly)

dbSNP: rs1829392467
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001202981 SCV001374121 uncertain significance Cohen syndrome 2022-10-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1855 of the VPS13B protein (p.Ala1855Gly). 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: 934566). 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.
Genetic Services Laboratory, University of Chicago RCV001819892 SCV002068505 uncertain significance not specified 2019-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003346358 SCV004066246 uncertain significance Inborn genetic diseases 2023-08-20 criteria provided, single submitter clinical testing The c.5564C>G (p.A1855G) alteration is located in exon 34 (coding exon 33) of the VPS13B gene. This alteration results from a C to G substitution at nucleotide position 5564, causing the alanine (A) at amino acid position 1855 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003405386 SCV004113746 uncertain significance VPS13B-related disorder 2022-09-06 criteria provided, single submitter clinical testing The VPS13B c.5489C>G variant is predicted to result in the amino acid substitution p.Ala1830Gly. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001202981 SCV002082583 uncertain significance Cohen syndrome 2020-03-27 no assertion criteria provided clinical testing

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