ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala)

gnomAD frequency: 0.00006  dbSNP: rs536167222
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311142 SCV000320233 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-12-07 criteria provided, single submitter clinical testing The p.T2455A variant (also known as c.7363A>G), located in coding exon 34 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 7363. The threonine at codon 2455 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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 variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000766053 SCV000897509 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000816086 SCV000956576 benign Adams-Oliver syndrome 5 2023-10-17 criteria provided, single submitter clinical testing
GeneDx RCV001770223 SCV002001196 uncertain significance not provided 2023-08-17 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 does not alter protein structure/function; This variant is associated with the following publications: (PMID: 37016248, 29120527, 33415446, 36426335)
Genome-Nilou Lab RCV000816086 SCV002555200 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270179 SCV002555201 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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