ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu)

gnomAD frequency: 0.00009  dbSNP: rs367710569
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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 RCV000472629 SCV000548948 benign Adams-Oliver syndrome 5 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001591091 SCV001816217 uncertain significance not provided 2024-06-27 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 RCV000472629 SCV002553434 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270503 SCV002553435 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329051 SCV002626843 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-09-09 criteria provided, single submitter clinical testing The c.4157C>T (p.P1386L) alteration is located in exon 25 (coding exon 25) of the NOTCH1 gene. This alteration results from a C to T substitution at nucleotide position 4157, causing the proline (P) at amino acid position 1386 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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