ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.80G>T (p.Arg27Leu)

dbSNP: rs200727145
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428768 SCV000534346 likely benign not specified 2016-12-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001366305 SCV001562605 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003352865 SCV004069330 uncertain significance Inborn genetic diseases 2023-08-22 criteria provided, single submitter clinical testing The c.80G>T (p.R27L) alteration is located in exon 2 (coding exon 1) of the GRIN2B gene. This alteration results from a G to T substitution at nucleotide position 80, causing the arginine (R) at amino acid position 27 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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