ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1105G>A (p.Val369Met)

dbSNP: rs368057493
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719040 SCV000727387 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002528641 SCV003492306 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 369 of the CNTNAP2 protein (p.Val369Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs368057493, ExAC 0.2%), including at least one homozygous and/or hemizygous individual. 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: 515321). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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