Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV004720611 | SCV005329299 | uncertain significance | Developmental and epileptic encephalopathy, 12 | 2023-05-20 | criteria provided, single submitter | clinical testing | The observed missense variant c.928G>A (p.Glu310Lys) in PLCB1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu310Lys variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (SIFT - damaging; Polyphen - probably damaging; MutationTaster - disease causing) predict a damaging effect on protein structure and function for this variant. The amino acid change p.Glu310Lys in PLCB1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Glu at position 310 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS). |