ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3854G>A (p.Arg1285Lys) (rs367543132)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474726 SCV000552388 uncertain significance Epilepsy, focal, with speech disorder and with or without mental retardation 2016-10-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 1285 of the GRIN2A protein (p.Arg1285Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. This variant is present in population databases (rs367543132, ExAC 0.01%) but has not been reported in the literature in individuals with a GRIN2A-related disease. ClinVar contains an entry for this variant (Variation ID: 98461). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The lysine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000084752 SCV000892458 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084752 SCV000116888 not provided not provided no assertion provided not provided

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