ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.862A>G (p.Ile288Val)

gnomAD frequency: 0.00002  dbSNP: rs757316182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001363310 SCV001559416 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 288 of the CNTNAP2 protein (p.Ile288Val). This variant is present in population databases (rs757316182, 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: 1054748). 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. 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.
GeneDx RCV001751717 SCV002007262 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002447463 SCV002682468 uncertain significance Inborn genetic diseases 2023-05-05 criteria provided, single submitter clinical testing The c.862A>G (p.I288V) alteration is located in exon 6 (coding exon 6) of the CNTNAP2 gene. This alteration results from a A to G substitution at nucleotide position 862, causing the isoleucine (I) at amino acid position 288 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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