ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1138G>A (p.Ala380Thr)

gnomAD frequency: 0.00001  dbSNP: rs751589771
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216231 SCV001388018 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-08-09 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 380 of the CNTNAP2 protein (p.Ala380Thr). This variant is present in population databases (rs751589771, gnomAD 0.01%). 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: 945566). 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: "Benign"; 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.
GeneDx RCV001570848 SCV001795210 uncertain significance not provided 2021-04-27 criteria provided, single submitter clinical testing 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
Ambry Genetics RCV002561887 SCV003552713 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.1138G>A (p.A380T) alteration is located in exon 8 (coding exon 8) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 1138, causing the alanine (A) at amino acid position 380 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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