ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2038G>A (p.Glu680Lys)

gnomAD frequency: 0.00010  dbSNP: rs368905425
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001161975 SCV001323901 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001161975 SCV001380111 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 680 of the CNTNAP2 protein (p.Glu680Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs368905425, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. 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: "Possibly Damaging"; 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.
Revvity Omics, Revvity RCV001161975 SCV003831092 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-07-08 criteria provided, single submitter clinical testing
GeneDx RCV003325545 SCV004032030 uncertain significance not provided 2023-08-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18179895, 30586385, 30675382, 24807205, 25621974)

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