ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3416C>A (p.Thr1139Lys)

dbSNP: rs1948591192
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060529 SCV001225223 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2021-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451257 SCV002614303 uncertain significance Inborn genetic diseases 2017-07-21 criteria provided, single submitter clinical testing The p.T1139K variant (also known as c.3416C>A), located in coding exon 12 of the GRIN2B gene, results from a C to A substitution at nucleotide position 3416. The threonine at codon 1139 is replaced by lysine, 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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