ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3373G>A (p.Ala1125Thr)

gnomAD frequency: 0.00004  dbSNP: rs767963898
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802441 SCV000942273 benign Adams-Oliver syndrome 5 2024-09-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028111 SCV003742452 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-08 criteria provided, single submitter clinical testing The p.A1125T variant (also known as c.3373G>A), located in coding exon 21 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3373. The alanine at codon 1125 is replaced by threonine, 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.
CeGaT Center for Human Genetics Tuebingen RCV003432769 SCV004162035 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing NOTCH1: PP2, BP4

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