Submissions for variant NM_014141.6(CNTNAP2):c.1118C>T (p.Thr373Met)

gnomAD frequency: 0.00002  dbSNP: rs149576292

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001213130	SCV001384747	uncertain significance	Cortical dysplasia-focal epilepsy syndrome	2022-08-06	criteria provided, single submitter	clinical testing	This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 373 of the CNTNAP2 protein (p.Thr373Met). This variant is present in population databases (rs149576292, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 943027). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
CeGaT Center for Human Genetics Tuebingen	RCV003992466	SCV004811382	uncertain significance	not provided	2024-03-01	criteria provided, single submitter	clinical testing