ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3925G>A (p.Ala1309Thr)

gnomAD frequency: 0.00006  dbSNP: rs530757880
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685009 SCV000812477 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-09-28 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 1309 of the CNTNAP2 protein (p.Ala1309Thr). This variant is present in population databases (rs530757880, gnomAD 0.04%). 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: 565444). 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.
Ambry Genetics RCV004609484 SCV005106528 uncertain significance Inborn genetic diseases 2024-04-15 criteria provided, single submitter clinical testing The c.3925G>A (p.A1309T) alteration is located in exon 24 (coding exon 24) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 3925, causing the alanine (A) at amino acid position 1309 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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