ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys)

gnomAD frequency: 0.00006  dbSNP: rs199652954
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311169 SCV000320347 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-11-06 criteria provided, single submitter clinical testing The p.R1926C variant (also known as c.5776C>T), located in coding exon 31 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 5776. The arginine at codon 1926 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was previously reported in the SNPDatabase as rs199652954. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.02% (2/12912) total alleles studied and 0.02% (2/8564) European American alleles. Allele frequency data for this nucleotide position is not currently available from the 1000 Genomes Project. This amino acid position is highly 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 variant remains unclear.
GeneDx RCV000429642 SCV000535033 uncertain significance not provided 2022-09-21 criteria provided, single submitter clinical testing Identified in a patient with sporadic bicuspid aortic valve in published literature (Debiec et al., 2022); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35288444)
Invitae RCV000792055 SCV000931327 benign Adams-Oliver syndrome 5 2023-10-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000792055 SCV002553327 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270183 SCV002553328 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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