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NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 9, 2020)
Last evaluated:
Sep 10, 2020
Accession:
VCV000981271.2
Variation ID:
981271
Description:
single nucleotide variant
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NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg)

Allele ID
969360
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 137162504 (GRCh38) GRCh38 UCSC
9: 140056956 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.140056956G>C
NC_000009.12:g.137162504G>C
NM_007327.4:c.1852G>C MANE Select NP_015566.1:p.Gly618Arg missense
... more HGVS
Protein change
G618R, G639R
Other names
-
Canonical SPDI
NC_000009.12:137162503:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 10, 2020 RCV001260626.1
Likely pathogenic 1 criteria provided, single submitter Dec 11, 2017 RCV001265679.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GRIN1 - - GRCh38
GRCh37
447 512

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 10, 2020)
criteria provided, single submitter
Method: clinical testing
Intellectual disability
Allele origin: de novo
Diagnostic Laboratory, Strasbourg University Hospital
Accession: SCV001437718.1
Submitted: (Sep 18, 2020)
Evidence details
Likely pathogenic
(Dec 11, 2017)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV001443846.1
Submitted: (Oct 09, 2020)
Evidence details
Publications
PubMed (4)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function. Chen W Journal of human genetics 2017 PMID: 28228639
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Lemke JR Neurology 2016 PMID: 27164704
NMDA receptor structures reveal subunit arrangement and pore architecture. Lee CH Nature 2014 PMID: 25008524
Structures of the M2 channel-lining segments from nicotinic acetylcholine and NMDA receptors by NMR spectroscopy. Opella SJ Nature structural biology 1999 PMID: 10201407

Record last updated Aug 17, 2021