ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.764C>T (p.Thr255Met)

dbSNP: rs748054907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001560366 SCV001782764 uncertain significance not provided 2019-06-12 criteria provided, single submitter clinical testing Reported in a patient with autism in published literature; paternally inherited, however clinical information on the parent was not provided (Guo et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30564305)
Labcorp Genetics (formerly Invitae), Labcorp RCV002569011 SCV003250510 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-08-29 criteria provided, single submitter clinical testing

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