ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5737G>T (p.Val1913Phe)

dbSNP: rs2133932316
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001984671 SCV002211502 uncertain significance Cohen syndrome 2022-10-24 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 expected to disrupt VPS13B protein function. ClinVar contains an entry for this variant (Variation ID: 1434571). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine with phenylalanine at codon 1938 of the VPS13B protein (p.Val1938Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine.

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