ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3344T>C (p.Val1115Ala)

gnomAD frequency: 0.00002  dbSNP: rs757813902
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187230 SCV000240812 uncertain significance not provided 2020-02-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001227035 SCV001399371 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 1115 of the CNTNAP2 protein (p.Val1115Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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: 205285). 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 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.
CeGaT Center for Human Genetics Tuebingen RCV000187230 SCV004161281 uncertain significance not provided 2024-11-01 criteria provided, single submitter clinical testing

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