Submissions for variant NM_014141.6(CNTNAP2):c.3197A>G (p.Tyr1066Cys)

dbSNP: rs1795664797

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001874433	SCV002130933	uncertain significance	Cortical dysplasia-focal epilepsy syndrome	2021-01-19	criteria provided, single submitter	clinical testing	Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with CNTNAP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 1066 of the CNTNAP2 protein (p.Tyr1066Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.
Revvity Omics, Revvity	RCV001874433	SCV004235351	uncertain significance	Cortical dysplasia-focal epilepsy syndrome	2023-10-31	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV003989723	SCV004807621	uncertain significance	Autism, susceptibility to, 15	2024-03-29	criteria provided, single submitter	clinical testing