NM_007327.4(GRIN1):c.1331C>T (p.Pro444Leu) AND History of neurodevelopmental disorder

Clinical significance:Uncertain significance (Last evaluated: Jun 12, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000720783.1

Allele description [Variation Report for NM_007327.4(GRIN1):c.1331C>T (p.Pro444Leu)]

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

Gene:
GRIN1:glutamate ionotropic receptor NMDA type subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_007327.4(GRIN1):c.1331C>T (p.Pro444Leu)
HGVS:
  • NC_000009.12:g.137161189C>T
  • NG_011507.1:g.27033C>T
  • NM_000832.7:c.1331C>T
  • NM_001185090.2:c.1394C>T
  • NM_001185091.2:c.1394C>T
  • NM_007327.4:c.1331C>TMANE SELECT
  • NM_021569.4:c.1331C>T
  • NP_000823.4:p.Pro444Leu
  • NP_001172019.1:p.Pro465Leu
  • NP_001172020.1:p.Pro465Leu
  • NP_015566.1:p.Pro444Leu
  • NP_067544.1:p.Pro444Leu
  • NC_000009.11:g.140055641C>T
  • NM_007327.3:c.1331C>T
Protein change:
P444L
Links:
dbSNP: rs200225692
NCBI 1000 Genomes Browser:
rs200225692
Molecular consequence:
  • NM_000832.7:c.1331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185090.2:c.1394C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185091.2:c.1394C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007327.4:c.1331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021569.4:c.1331C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000851665Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jun 12, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000851665.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

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 position 1331. The proline at codon 444 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 26, 2021

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