ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7319C>T (p.Thr2440Ile)

gnomAD frequency: 0.00003  dbSNP: rs777428883
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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 RCV001952799 SCV002210439 uncertain significance Cohen syndrome 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 2465 of the VPS13B protein (p.Thr2465Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs777428883, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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.
PreventionGenetics, part of Exact Sciences RCV004743667 SCV005357518 uncertain significance VPS13B-related disorder 2024-07-12 no assertion criteria provided clinical testing The VPS13B c.7319C>T variant is predicted to result in the amino acid substitution p.Thr2440Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD. 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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