ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2716C>T (p.Arg906Cys)

gnomAD frequency: 0.00009  dbSNP: rs141617212
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000733528 SCV000240848 uncertain significance not provided 2023-04-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000472216 SCV000553425 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-06-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 906 of the CNTNAP2 protein (p.Arg906Cys). This variant is present in population databases (rs141617212, 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: 205315). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Eurofins Ntd Llc (ga) RCV000733528 SCV000861605 uncertain significance not provided 2018-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426903 SCV002743556 uncertain significance Inborn genetic diseases 2023-05-26 criteria provided, single submitter clinical testing The c.2716C>T (p.R906C) alteration is located in exon 17 (coding exon 17) of the CNTNAP2 gene. This alteration results from a C to T substitution at nucleotide position 2716, causing the arginine (R) at amino acid position 906 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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