ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3106G>A (p.Ala1036Thr)

gnomAD frequency: 0.00001  dbSNP: rs545175315
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487299 SCV000569783 uncertain significance not provided 2021-08-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 19896112)
Labcorp Genetics (formerly Invitae), Labcorp RCV000689711 SCV000817376 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-08-10 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 1036 of the CNTNAP2 protein (p.Ala1036Thr). This variant is present in population databases (rs545175315, gnomAD 0.007%). 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: 420805). 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 tolerated. 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 RCV000765936 SCV000897356 uncertain significance Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323827 SCV002607821 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.3106G>A (p.A1036T) alteration is located in exon 19 (coding exon 19) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 3106, causing the alanine (A) at amino acid position 1036 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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