ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1766C>A (p.Thr589Asn)

gnomAD frequency: 0.00001  dbSNP: rs756006548
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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 RCV000806969 SCV000946993 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-10-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 651575). 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"). 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. This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 589 of the CNTNAP2 protein (p.Thr589Asn). This variant is present in population databases (rs756006548, gnomAD 0.003%).
Ambry Genetics RCV002537238 SCV003574073 uncertain significance Inborn genetic diseases 2021-08-16 criteria provided, single submitter clinical testing The c.1766C>A (p.T589N) alteration is located in exon 11 (coding exon 11) of the CNTNAP2 gene. This alteration results from a C to A substitution at nucleotide position 1766, causing the threonine (T) at amino acid position 589 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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