ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8741C>T (p.Pro2914Leu)

gnomAD frequency: 0.00001  dbSNP: rs147437490
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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 RCV001373639 SCV001570365 uncertain significance Cohen syndrome 2023-08-01 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1063768). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is present in population databases (rs147437490, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2939 of the VPS13B protein (p.Pro2939Leu).
Natera, Inc. RCV001373639 SCV002082689 uncertain significance Cohen syndrome 2020-08-24 no assertion criteria provided clinical testing

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