ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3607G>A (p.Val1203Ile)

gnomAD frequency: 0.00004  dbSNP: rs745397865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187236 SCV000240818 uncertain significance not provided 2019-07-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000687748 SCV000815334 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1203 of the CNTNAP2 protein (p.Val1203Ile). This variant is present in population databases (rs745397865, gnomAD 0.02%). 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: 205289). 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 RCV002513997 SCV003740442 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.3607G>A (p.V1203I) alteration is located in exon 22 (coding exon 22) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 3607, causing the valine (V) at amino acid position 1203 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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