ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.115C>T (p.Leu39Phe)

gnomAD frequency: 0.00002  dbSNP: rs747896321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187242 SCV000240824 uncertain significance not provided 2023-08-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001857607 SCV002154153 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 39 of the CNTNAP2 protein (p.Leu39Phe). This variant is present in population databases (rs747896321, gnomAD 0.009%). 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: 205295). 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 disruptive. 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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