ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3965T>C (p.Ile1322Thr)

gnomAD frequency: 0.00001  dbSNP: rs770332632
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336152 SCV001529468 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2018-07-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001336152 SCV003447035 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1322 of the CNTNAP2 protein (p.Ile1322Thr). This variant is present in population databases (rs770332632, gnomAD 0.006%). 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: 1033665). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV004609778 SCV005106531 uncertain significance Inborn genetic diseases 2024-05-08 criteria provided, single submitter clinical testing The c.3965T>C (p.I1322T) alteration is located in exon 24 (coding exon 24) of the CNTNAP2 gene. This alteration results from a T to C substitution at nucleotide position 3965, causing the isoleucine (I) at amino acid position 1322 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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