ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3833C>T (p.Thr1278Ile)

gnomAD frequency: 0.00003  dbSNP: rs760047247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711332 SCV000841673 uncertain significance not provided 2017-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001360701 SCV001556632 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1278 of the CNTNAP2 protein (p.Thr1278Ile). This variant is present in population databases (rs760047247, gnomAD 0.005%). This missense change has been observed in individual(s) with autism spectrum disorder (PMID: 18179895). ClinVar contains an entry for this variant (Variation ID: 585729). 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"). Experimental studies have shown that this missense change affects CNTNAP2 function (PMID: 22872700). 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.

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