ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2903C>T (p.Thr968Ile)

gnomAD frequency: 0.00001  dbSNP: rs1255422619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001160427 SCV001322225 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 RCV001160427 SCV001398780 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-12-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 909391). 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 C15"). 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 affected with CNTNAP2-related conditions. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 968 of the CNTNAP2 protein (p.Thr968Ile). This variant is present in population databases (no rsID available, gnomAD 0.003%).

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