ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1165C>T (p.Arg389Trp)

gnomAD frequency: 0.00016  dbSNP: rs375172684
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000656838 SCV000232722 uncertain significance not provided 2018-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000656838 SCV000240843 uncertain significance not provided 2024-02-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000644699 SCV000766402 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 389 of the CNTNAP2 protein (p.Arg389Trp). This variant is present in population databases (rs375172684, gnomAD 0.02%). 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: 198854). 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.
Baylor Genetics RCV000644699 SCV001529459 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2018-03-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002326978 SCV002632693 uncertain significance Inborn genetic diseases 2021-06-09 criteria provided, single submitter clinical testing The c.1165C>T (p.R389W) alteration is located in exon 8 (coding exon 8) of the CNTNAP2 gene. This alteration results from a C to T substitution at nucleotide position 1165, causing the arginine (R) at amino acid position 389 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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