Submissions for variant NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)

gnomAD frequency: 0.00002  dbSNP: rs751007903

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000701504	SCV000830307	benign	Adams-Oliver syndrome 5	2023-12-09	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001198791	SCV001369786	uncertain significance	Aortic valve disease 1	2020-02-20	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.
Genome-Nilou Lab	RCV000701504	SCV002553268	uncertain significance	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001198791	SCV002553271	uncertain significance	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374625	SCV002668002	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2019-08-14	criteria provided, single submitter	clinical testing	The p.R2327W variant (also known as c.6979C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 6979. The arginine at codon 2327 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Database of Curated Mutations (DoCM)	RCV000420862	SCV000505718	not provided	Non-small cell lung carcinoma	2016-03-10	no assertion provided	literature only