ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.883G>A (p.Gly295Ser)

gnomAD frequency: 0.00004  dbSNP: rs568484876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000639584 SCV000761161 likely benign Landau-Kleffner syndrome 2024-01-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816592 SCV002070531 uncertain significance not specified 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369668 SCV002684331 uncertain significance Inborn genetic diseases 2017-06-29 criteria provided, single submitter clinical testing The p.G295S variant (also known as c.883G>A), located in coding exon 2 of the GRIN2A gene, results from a G to A substitution at nucleotide position 883. The glycine at codon 295 is replaced by serine, an amino acid with similar properties. This alteration has been reported in an individual with Rolandric epilepsy, however the inheritance of the alteration could not be determined (Lesca G et al. Nat. Genet., 2013 Sep;45:1061-6; Burnashev N et al. Curr. Opin. Pharmacol., 2015 Feb;20:73-82). In addition, functional studies performed to determine the impact of the alteration on the receptor expression and activation showed no significant difference from the wild-type (Serraz B et al. Neuropharmacol., 2016 Oct;109:196-204). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. .

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