ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro)

gnomAD frequency: 0.00001  dbSNP: rs769551176
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000436248 SCV000510697 likely benign not provided 2016-08-03 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001064341 SCV001229237 uncertain significance Cohen syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 2835 of the VPS13B protein (p.Gln2835Pro). This variant is present in population databases (rs769551176, gnomAD 0.04%). 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: 376828). 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 RCV002524704 SCV003729366 uncertain significance Inborn genetic diseases 2021-07-08 criteria provided, single submitter clinical testing The c.8504A>C (p.Q2835P) alteration is located in exon 46 (coding exon 45) of the VPS13B gene. This alteration results from a A to C substitution at nucleotide position 8504, causing the glutamine (Q) at amino acid position 2835 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003897837 SCV004715917 uncertain significance VPS13B-related disorder 2023-10-25 criteria provided, single submitter clinical testing The VPS13B c.8429A>C variant is predicted to result in the amino acid substitution p.Gln2810Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.035% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-100830746-A-C). 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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