ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11674G>A (p.Ala3892Thr)

dbSNP: rs2130975882
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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 RCV001968126 SCV002224477 uncertain significance Cohen syndrome 2021-04-02 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with VPS13B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 3917 of the VPS13B protein (p.Ala3917Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine.

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