ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser)

gnomAD frequency: 0.00010  dbSNP: rs765844768
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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 RCV001362613 SCV001558642 benign Adams-Oliver syndrome 5 2024-07-11 criteria provided, single submitter clinical testing
GeneDx RCV001664851 SCV001872923 uncertain significance not provided 2023-09-26 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
Genome-Nilou Lab RCV001362613 SCV002553410 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271228 SCV002553411 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341765 SCV002639847 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-10-08 criteria provided, single submitter clinical testing The p.G1513S variant (also known as c.4537G>A), located in coding exon 25 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 4537. The glycine at codon 1513 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.

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