ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3431C>G (p.Thr1144Ser)

gnomAD frequency: 0.00002  dbSNP: rs775781258
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000345644 SCV000338388 uncertain significance not provided 2016-01-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001309590 SCV001499093 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1144 of the CNTNAP2 protein (p.Thr1144Ser). This variant is present in population databases (rs775781258, gnomAD 0.004%). 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: 285390). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Baylor Genetics RCV001309590 SCV001519894 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2019-06-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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