ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.620G>A (p.Arg207His)

dbSNP: rs779118023
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224948 SCV001397177 benign Adams-Oliver syndrome 5 2024-11-16 criteria provided, single submitter clinical testing
GeneDx RCV001587253 SCV001816342 uncertain significance not provided 2023-08-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Genome-Nilou Lab RCV001224948 SCV002553996 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271197 SCV002553998 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032525 SCV005027344 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-01-27 criteria provided, single submitter clinical testing The p.R207H variant (also known as c.620G>A), located in coding exon 4 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 620. The arginine at codon 207 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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