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NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 17, 2019
Accession:
VCV000684553.3
Variation ID:
684553
Description:
single nucleotide variant
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NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)

Allele ID
672076
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 136507317 (GRCh38) GRCh38 UCSC
9: 139401769 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1122:g.43470C>T
LRG_1122t1:c.3631C>T LRG_1122p1:p.Arg1211Trp
NC_000009.11:g.139401769G>A
... more HGVS
Protein change
R1211W
Other names
-
Canonical SPDI
NC_000009.12:136507316:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00003
Links
dbSNP: rs766644919
VarSome
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NOTCH1 - - GRCh38
GRCh37
1772 1856

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 17, 2019)
criteria provided, single submitter
Method: clinical testing
Adams-Oliver syndrome 5
Allele origin: germline
Invitae
Accession: SCV001391785.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with tryptophan at codon 1211 of the NOTCH1 protein (p.Arg1211Trp). The arginine residue is highly conserved and there is a … (more)
not provided
(-)
no assertion provided
Method: phenotyping only
Adams-Oliver syndrome 5
Aortic valve disease 1
Allele origin: maternal
GenomeConnect, ClinGen
Accession: SCV000986938.1
Submitted: (Jan 30, 2019)
Evidence details
Comment:
Variant interpretted as Uncertain significance and reported on 07/26/2017 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report … (more)

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
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. Overwater E Human mutation 2018 PMID: 29907982

Text-mined citations for rs766644919...

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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 Oct 08, 2021