ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7355C>T (p.Ala2452Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002380266 SCV002671120 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-10-07 criteria provided, single submitter clinical testing The p.A2452V variant (also known as c.7355C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 7355. The alanine at codon 2452 is replaced by valine, 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.
GeneDx RCV003443044 SCV004169700 uncertain significance not provided 2023-04-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV003748410 SCV004530847 benign Adams-Oliver syndrome 5 2023-05-01 criteria provided, single submitter clinical testing

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