ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3385G>A (p.Asp1129Asn)

dbSNP: rs781236853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001162059 SCV001323990 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 RCV001162059 SCV001537333 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-12-31 criteria provided, single submitter clinical testing 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 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on CNTNAP2 function (PMID: 22872700). ClinVar contains an entry for this variant (Variation ID: 910344). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is present in population databases (rs781236853, gnomAD 0.002%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1129 of the CNTNAP2 protein (p.Asp1129Asn).
CeGaT Center for Human Genetics Tuebingen RCV001726439 SCV001962103 uncertain significance not provided 2021-08-01 criteria provided, single submitter clinical testing

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