ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2923G>A (p.Glu975Lys)

dbSNP: rs1654681238
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217695 SCV001389544 uncertain significance Epilepsy, familial adult myoclonic, 5 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 975 of the CNTN2 protein (p.Glu975Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CNTN2-related conditions. 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 C55"). 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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