ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.10624A>G (p.Lys3542Glu) (rs143187571)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192802 SCV000249394 uncertain significance not specified 2014-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000766563 SCV000577343 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing The K3542E variant in the VPS13B gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 12/66738 (0.02%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). This substitution occurs at a position where amino acids with similar properties to Lysine are tolerated across species. However, the K3542E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret K3542E as a variant of uncertain significance.

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