ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5219C>T (p.Ala1740Val)

gnomAD frequency: 0.00004  dbSNP: rs777962754
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518862 SCV000620736 uncertain significance not provided 2020-12-09 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
Ambry Genetics RCV002350154 SCV002646688 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-03-17 criteria provided, single submitter clinical testing The p.A1740V variant (also known as c.5219C>T), located in coding exon 28 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 5219. The alanine at codon 1740 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.
Invitae RCV002527634 SCV003246680 benign Adams-Oliver syndrome 5 2023-05-26 criteria provided, single submitter clinical testing

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