Submissions for variant NM_005076.5(CNTN2):c.1656C>A (p.Asp552Glu)

gnomAD frequency: 0.00182  dbSNP: rs145352110

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000486057	SCV000571377	uncertain significance	not provided	2016-08-25	criteria provided, single submitter	clinical testing	The D552E variant in the CNTN2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not observed in the homozygous state, the NHLBI ESP Exome Sequencing Project reports D552E was observed in 19/4406 alleles (0.43%) from individuals of African American background, indicating it may be a rare variant in this population. The D552E variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D552E as a variant of uncertain significance.
Invitae	RCV001082154	SCV001021533	likely benign	Epilepsy, familial adult myoclonic, 5	2024-01-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003942596	SCV004758730	likely benign	CNTN2-related condition	2023-03-30	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).