ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met)

gnomAD frequency: 0.00006  dbSNP: rs573864607
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427061 SCV000529840 uncertain significance not provided 2024-06-17 criteria provided, single submitter clinical testing Identified in at least one individual with a bicuspid aortic valve and heritable thoracic aortic disease (PMID: 32748548); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32748548)
Labcorp Genetics (formerly Invitae), Labcorp RCV001222877 SCV001394999 likely benign Adams-Oliver syndrome 5 2023-12-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001222877 SCV002553397 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270386 SCV002553398 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV005372309 SCV006035529 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2025-02-12 criteria provided, single submitter clinical testing The p.T1573M variant (also known as c.4718C>T), located in coding exon 26 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 4718. The threonine at codon 1573 is replaced by methionine, an amino acid with similar properties. This variant has been reported in a hereditary thoracic aortic dissection cohort (Musfee FI et al. Mol Genet Genomic Med, 2020 Oct;8:e1406). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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