ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6566T>G (p.Leu2189Arg)

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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 RCV002900454 SCV003251211 uncertain significance Cohen syndrome 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2214 of the VPS13B protein (p.Leu2214Arg). This variant is present in population databases (rs768005455, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. 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. 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 RCV003269307 SCV003972661 uncertain significance Inborn genetic diseases 2023-04-28 criteria provided, single submitter clinical testing The c.6641T>G (p.L2214R) alteration is located in exon 37 (coding exon 36) of the VPS13B gene. This alteration results from a T to G substitution at nucleotide position 6641, causing the leucine (L) at amino acid position 2214 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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