ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3032G>A (p.Arg1011Gln)

gnomAD frequency: 0.00001  dbSNP: rs1163766811
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658739 SCV000780527 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317909 SCV000851469 uncertain significance Inborn genetic diseases 2017-01-18 criteria provided, single submitter clinical testing The p.R1011Q variant (also known as c.3032G>A), located in coding exon 12 of the GRIN2A gene, results from a G to A substitution at nucleotide position 3032. The arginine at codon 1011 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV001298860 SCV001487931 likely benign Landau-Kleffner syndrome 2024-01-28 criteria provided, single submitter clinical testing

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