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
Invitae RCV001362613 SCV001558642 benign Adams-Oliver syndrome 5 2023-06-25 criteria provided, single submitter clinical testing
GeneDx RCV001664851 SCV001872923 uncertain significance not provided 2022-11-25 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 2024-03-08 criteria provided, single submitter clinical testing The c.4537G>A (p.G1513S) alteration is located in exon 25 (coding exon 25) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 4537, causing the glycine (G) at amino acid position 1513 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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