ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.736G>A (p.Val246Ile)

gnomAD frequency: 0.00001  dbSNP: rs933650648
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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 RCV001226257 SCV001398564 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 246 of the CNTNAP2 protein (p.Val246Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. 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.
Ambry Genetics RCV003365267 SCV004084584 uncertain significance Inborn genetic diseases 2023-07-17 criteria provided, single submitter clinical testing The c.736G>A (p.V246I) alteration is located in exon 5 (coding exon 5) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 736, causing the valine (V) at amino acid position 246 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004695229 SCV005195709 uncertain significance not provided criteria provided, single submitter not provided

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