Submissions for variant NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)

gnomAD frequency: 0.00030  dbSNP: rs371839994

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000187174	SCV000240754	likely benign	not specified	2018-03-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000187174	SCV000247051	uncertain significance	not specified	2015-08-03	criteria provided, single submitter	clinical testing
Invitae	RCV000227817	SCV000289924	likely benign	Cortical dysplasia-focal epilepsy syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000515191	SCV000611461	uncertain significance	Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome	2017-05-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314708	SCV000849284	likely benign	Inborn genetic diseases	2022-05-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga)	RCV000187174	SCV000856758	likely benign	not specified	2017-09-28	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000515191	SCV000898622	uncertain significance	Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome	2021-11-11	criteria provided, single submitter	clinical testing	CNTNAP2 NM_014141 exon 8 p.Ser382Asn (c.1145G>A): This variant has not been reported in the literature but is is present in 0.7% (220/34350) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs371839994). This variant is present in ClinVar (Variation ID:205233). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Mayo Clinic Laboratories, Mayo Clinic	RCV003480545	SCV004224120	uncertain significance	not provided	2022-07-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955123	SCV004768526	likely benign	CNTNAP2-related condition	2024-02-26	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).