Submissions for variant NM_001242896.3(DEPDC5):c.3484A>G (p.Ser1162Gly)

gnomAD frequency: 0.00001  dbSNP: rs886039280

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002229830	SCV000944809	uncertain significance	Familial focal epilepsy with variable foci	2024-07-01	criteria provided, single submitter	clinical testing	This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 1162 of the DEPDC5 protein (p.Ser1162Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Rolandic epilepsy (PMID: 24591017, 29358611). This variant is also known as c.3457A>G, p.S1153G, and g.32266729A>G. ClinVar contains an entry for this variant (Variation ID: 264762). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Experimental studies have shown that this missense change does not substantially affect DEPDC5 function (PMID: 25366275). 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.
GeneReviews	RCV000254595	SCV000321060	not provided	Epilepsy, familial focal, with variable foci 1		no assertion provided	literature only
Bioinformatics Core, Luxembourg Center for Systems Biomedicine	RCV000656076	SCV000588352	pathogenic	Self-limited epilepsy with centrotemporal spikes	2017-01-01	no assertion criteria provided	case-control	CAADphred>15