ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.904G>A (p.Ala302Thr)

gnomAD frequency: 0.00001  dbSNP: rs901717931
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318685 SCV000849973 uncertain significance Inborn genetic diseases 2016-04-27 criteria provided, single submitter clinical testing The p.A302T variant (also known as c.904G>A), located in coding exon 2 of the GRIN2A gene, results from a G to A substitution at nucleotide position 904. The alanine at codon 302 is replaced by threonine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6497 samples (12994 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV000820732 SCV000961457 likely benign Landau-Kleffner syndrome 2023-12-25 criteria provided, single submitter clinical testing

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