ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5495C>G (p.Pro1832Arg)

gnomAD frequency: 0.00001  dbSNP: rs1425070721
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763680 SCV002001061 uncertain significance not provided 2021-02-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001868565 SCV002148154 likely benign Adams-Oliver syndrome 5 2023-11-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001868565 SCV002553340 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271296 SCV002553341 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040247 SCV005027338 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-03-11 criteria provided, single submitter clinical testing The p.P1832R variant (also known as c.5495C>G), located in coding exon 30 of the NOTCH1 gene, results from a C to G substitution at nucleotide position 5495. The proline at codon 1832 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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