ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2902A>G (p.Thr968Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002438092 SCV002751866 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-09-09 criteria provided, single submitter clinical testing The p.T968A variant (also known as c.2902A>G), located in coding exon 18 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 2902. The threonine at codon 968 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003102860 SCV003472242 benign Adams-Oliver syndrome 5 2023-02-09 criteria provided, single submitter clinical testing

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