ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser)

gnomAD frequency: 0.00002  dbSNP: rs371333249
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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 RCV000460912 SCV000548929 likely benign Adams-Oliver syndrome 5 2024-10-21 criteria provided, single submitter clinical testing
GeneDx RCV001584157 SCV001813391 uncertain significance not provided 2023-05-16 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 has a deleterious effect on protein structure/function
Genome-Nilou Lab RCV000460912 SCV002553983 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270497 SCV002553984 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411472 SCV002676151 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-08-17 criteria provided, single submitter clinical testing The p.G275S variant (also known as c.823G>A), located in coding exon 5 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 823. The glycine at codon 275 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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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