ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1896A>C (p.Thr632=)

gnomAD frequency: 0.00003  dbSNP: rs749646225
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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) RCV000728883 SCV000856504 uncertain significance not provided 2017-08-21 criteria provided, single submitter clinical testing
Invitae RCV001228663 SCV001401075 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-02-03 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 593754). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is present in population databases (rs749646225, gnomAD 0.003%). This sequence change affects codon 632 of the CNTNAP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CNTNAP2 protein. It affects a nucleotide within the consensus splice site.
GeneDx RCV000728883 SCV001866340 benign not provided 2015-04-03 criteria provided, single submitter clinical testing

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