ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3862C>A (p.Arg1288Ser)

dbSNP: rs138661307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796587 SCV000936106 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-07-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 1288 of the CNTNAP2 protein (p.Arg1288Ser). This variant is present in population databases (rs138661307, gnomAD 0.1%). 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: 642998). 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 disruptive. 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.
Ambry Genetics RCV003243303 SCV003950195 uncertain significance Inborn genetic diseases 2023-06-05 criteria provided, single submitter clinical testing The c.3862C>A (p.R1288S) alteration is located in exon 24 (coding exon 24) of the CNTNAP2 gene. This alteration results from a C to A substitution at nucleotide position 3862, causing the arginine (R) at amino acid position 1288 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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