ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.79C>A (p.Pro27Thr)

gnomAD frequency: 0.00001  dbSNP: rs769784635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462159 SCV000548961 benign Adams-Oliver syndrome 5 2023-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418394 SCV002678646 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-03-26 criteria provided, single submitter clinical testing The c.79C>A (p.P27T) alteration is located in exon 2 (coding exon 2) of the NOTCH1 gene. This alteration results from a C to A substitution at nucleotide position 79, causing the proline (P) at amino acid position 27 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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