ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2479G>A (p.Gly827Arg)

dbSNP: rs1451230055
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000576881 SCV000807435 pathogenic Intellectual disability, autosomal dominant 8 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092464 SCV001248985 pathogenic not provided 2017-04-01 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001375029 SCV001572317 pathogenic Neurodevelopmental disorder 2020-10-06 criteria provided, single submitter clinical testing
GeneDx RCV001092464 SCV001783439 pathogenic not provided 2020-04-02 criteria provided, single submitter clinical testing Published functional studies demonstrate G827R dramatically alters receptor gating (Amin et al., 2018); No data available from ethnically-matched control populations to assess the frequency of this variant; This variant is associated with the following publications: (PMID: 33144682, 30139991, 29365063, 30217972, 25326635, 29124671, 28389307, 27652284, 26633542, 27164704)
OMIM RCV002051706 SCV000678278 pathogenic NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND WITH OR WITHOUT SEIZURES, AUTOSOMAL DOMINANT 2022-03-28 no assertion criteria provided literature only

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