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NM_007327.4(GRIN1):c.1331C>T (p.Pro444Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 24, 2021)
Last evaluated:
Nov 3, 2020
Accession:
VCV000265188.8
Variation ID:
265188
Description:
single nucleotide variant
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NM_007327.4(GRIN1):c.1331C>T (p.Pro444Leu)

Allele ID
259921
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 137161189 (GRCh38) GRCh38 UCSC
9: 140055641 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.140055641C>T
NC_000009.12:g.137161189C>T
NG_011507.1:g.27033C>T
... more HGVS
Protein change
P444L, P465L
Other names
-
Canonical SPDI
NC_000009.12:137161188:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00015
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00026
Links
ClinGen: CA5360891
dbSNP: rs200225692
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Feb 26, 2020 RCV000255622.4
Uncertain significance 1 criteria provided, single submitter Jun 12, 2018 RCV000720783.1
Likely benign 1 criteria provided, single submitter Nov 3, 2020 RCV001079792.2
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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
Benign
(Feb 26, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000321755.7
Submitted: (Sep 24, 2021)
Evidence details
Comment:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to … (more)
Uncertain significance
(Jun 12, 2018)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000851665.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.P444L variant (also known as c.1331C>T), located in coding exon 9 of the GRIN1 gene, results from a C to T substitution at nucleotide … (more)
Likely benign
(Nov 03, 2020)
criteria provided, single submitter
Method: clinical testing
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Allele origin: germline
Invitae
Accession: SCV001129533.3
Submitted: (Jan 07, 2021)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs200225692...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 26, 2021