Submissions for variant NM_001242897.2(DEPDC5):c.161A>C (p.Gln54Pro) (rs201312113)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000711430	SCV000564932	uncertain significance	not provided	2016-02-05	criteria provided, single submitter	clinical testing	The Q54P variant in the DEPDC5 gene has not been reported in one individual with temporal lobe epilepsy and intellectual disability; however this variant was also observed in this patient's apparently unaffected mother (Ricos et al., 2016). The Q54P variant was not observed in approximately 5,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q54P 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. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, based on the currently information available, we continue to interpret Q54P as a variant of unknown significance.
Invitae	RCV001085197	SCV000642161	benign	Familial focal epilepsy with variable foci	2019-12-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000711430	SCV000841795	benign	not provided	2018-04-27	criteria provided, single submitter	clinical testing
GeneReviews	RCV000254580	SCV000321045	uncertain significance	Epilepsy, familial focal, with variable foci 1	2016-04-13	no assertion criteria provided	literature only