ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2239G>A (p.Ala747Thr)

gnomAD frequency: 0.00005  dbSNP: rs150530671
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725993 SCV000240785 uncertain significance not provided 2021-02-08 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
Eurofins Ntd Llc (ga) RCV000725993 SCV000341071 uncertain significance not provided 2016-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000525200 SCV000645091 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 747 of the CNTNAP2 protein (p.Ala747Thr). This variant is present in population databases (rs150530671, gnomAD 0.03%). 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: 205261). 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.
Fulgent Genetics, Fulgent Genetics RCV000765934 SCV000897354 uncertain significance Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516987 SCV003760135 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.2239G>A (p.A747T) alteration is located in exon 14 (coding exon 14) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 2239, causing the alanine (A) at amino acid position 747 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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