ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11750A>T (p.Asp3917Val)

dbSNP: rs754404502
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245808 SCV001419119 uncertain significance Cohen syndrome 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 3942 of the VPS13B protein (p.Asp3942Val). This variant is present in population databases (rs754404502, gnomAD 0.02%). 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: 970264). 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 expected to disrupt VPS13B protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. RCV001245808 SCV002084996 uncertain significance Cohen syndrome 2021-10-09 no assertion criteria provided clinical testing

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