ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His)

gnomAD frequency: 0.00001  dbSNP: rs544117297
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311177 SCV000320368 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-10-03 criteria provided, single submitter clinical testing The p.R592H variant (also known as c.1775G>A), located in coding exon 11 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 1775. The arginine at codon 592 is replaced by histidine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6463 samples (12926 alleles) with coverage at this position. This amino acid position is poorly 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.
Invitae RCV001854993 SCV002206577 benign Adams-Oliver syndrome 5 2022-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001854993 SCV002553925 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270184 SCV002553926 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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