ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg)

gnomAD frequency: 0.00001  dbSNP: rs780500109
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001365835 SCV001562118 benign Adams-Oliver syndrome 5 2023-07-25 criteria provided, single submitter clinical testing
GeneDx RCV001586152 SCV001818744 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001365835 SCV002553428 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271232 SCV002553429 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329373 SCV002626774 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-11-08 criteria provided, single submitter clinical testing The p.G1437R variant (also known as c.4309G>A), located in coding exon 25 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 4309. The glycine at codon 1437 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.

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