Submissions for variant NM_001242896.3(DEPDC5):c.2990G>A (p.Arg997His)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Neuberg Centre For Genomic Medicine, NCGM	RCV004764330	SCV005373615	uncertain significance	Epilepsy, familial focal, with variable foci 1	2023-06-02	criteria provided, single submitter	clinical testing	The observed missense c.2990G>A(p.Arg997His) variant in DEPDC5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid Arg at position 997 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Arg997His in DEPDC5 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Computational evidence (Polyphen - Benign, SIFT - Damaging, and MutationTaster - Disease causing) predicts conflicting evidence on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.
GeneDx	RCV004767770	SCV005375780	uncertain significance	not provided	2023-11-09	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge