ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.275G>A (p.Arg92Gln)

gnomAD frequency: 0.00004  dbSNP: rs138924087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187247 SCV000240829 uncertain significance not provided 2020-03-10 criteria provided, single submitter clinical testing Reported in a single control individual in a study regarding the association of CNTNAP2 variants and autism (Murdoch et al., 2015).; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25621974)
Labcorp Genetics (formerly Invitae), Labcorp RCV000818430 SCV000959044 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 92 of the CNTNAP2 protein (p.Arg92Gln). This variant is present in population databases (rs138924087, 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: 205300). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV002433838 SCV002752185 uncertain significance Inborn genetic diseases 2021-07-29 criteria provided, single submitter clinical testing The c.275G>A (p.R92Q) alteration is located in exon 3 (coding exon 3) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 275, causing the arginine (R) at amino acid position 92 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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