ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.569G>A (p.Arg190His)

dbSNP: rs761616770
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001766874 SCV001989817 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD)
Invitae RCV003586307 SCV004278738 benign Adams-Oliver syndrome 5 2023-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040124 SCV005027340 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-01-12 criteria provided, single submitter clinical testing The p.R190H variant (also known as c.569G>A), located in coding exon 4 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 569. The arginine at codon 190 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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