ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.467C>T (p.Thr156Met)

gnomAD frequency: 0.00001  dbSNP: rs763500409
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795346 SCV000934802 likely benign Landau-Kleffner syndrome 2020-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334479 SCV002640305 uncertain significance Inborn genetic diseases 2017-10-27 criteria provided, single submitter clinical testing The p.T156M variant (also known as c.467C>T), located in coding exon 2 of the GRIN2A gene, results from a C to T substitution at nucleotide position 467. The threonine at codon 156 is replaced by methionine, an amino acid with similar properties. This amino acid position is not well 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 alteration remains unclear.

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