ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10324G>A (p.Ala3442Thr)

gnomAD frequency: 0.00001  dbSNP: rs1816408668
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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 RCV001322724 SCV001513611 uncertain significance Cohen syndrome 2022-10-28 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3467 of the VPS13B protein (p.Ala3467Thr). 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: 1022775). 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.
Natera, Inc. RCV001322724 SCV002082743 uncertain significance Cohen syndrome 2021-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003898309 SCV004713716 uncertain significance VPS13B-related disorder 2023-12-05 no assertion criteria provided clinical testing The VPS13B c.10324G>A variant is predicted to result in the amino acid substitution p.Ala3442Thr. 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.

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