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NM_017617.5(NOTCH1):c.1379C>T (p.Pro460Leu) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 15, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002381112.2

Allele description [Variation Report for NM_017617.5(NOTCH1):c.1379C>T (p.Pro460Leu)]

NM_017617.5(NOTCH1):c.1379C>T (p.Pro460Leu)

Gene:
NOTCH1:notch receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_017617.5(NOTCH1):c.1379C>T (p.Pro460Leu)
HGVS:
  • NC_000009.12:g.136517814G>A
  • NG_007458.1:g.32973C>T
  • NM_017617.5:c.1379C>TMANE SELECT
  • NP_060087.3:p.Pro460Leu
  • LRG_1122t1:c.1379C>T
  • LRG_1122:g.32973C>T
  • LRG_1122p1:p.Pro460Leu
  • NC_000009.11:g.139412266G>A
  • NM_017617.3:c.1379C>T
Protein change:
P460L
Molecular consequence:
  • NM_017617.5:c.1379C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

Recent activity

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002696437Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 15, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002696437.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.P460L variant (also known as c.1379C>T), located in coding exon 8 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 1379. The proline at codon 460 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024