ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser)

gnomAD frequency: 0.00005  dbSNP: rs369259434
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426450 SCV000535462 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001857555 SCV002180053 benign Adams-Oliver syndrome 5 2023-04-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001857555 SCV002553550 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269928 SCV002553551 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426765 SCV002742042 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-10-29 criteria provided, single submitter clinical testing The p.G841S variant (also known as c.2521G>A), located in coding exon 16 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 2521. The glycine at codon 841 is replaced by serine, an amino acid with 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.
Blueprint Genetics RCV000157394 SCV000207132 uncertain significance Arterial dissection 2014-10-06 no assertion criteria provided clinical testing

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