ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu)

gnomAD frequency: 0.00005  dbSNP: rs560981171
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660178 SCV000782172 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001069195 SCV001234348 benign Adams-Oliver syndrome 5 2023-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369784 SCV002670241 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-01-29 criteria provided, single submitter clinical testing The p.P2410L variant (also known as c.7229C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 7229. The proline at codon 2410 is replaced by leucine, 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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