ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro)

gnomAD frequency: 0.00031  dbSNP: rs767728582
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546637 SCV000659491 likely benign Adams-Oliver syndrome 5 2023-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000769576 SCV000739488 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-11 criteria provided, single submitter clinical testing The p.L2408P variant (also known as c.7223T>C), located in coding exon 34 of the NOTCH1 gene, results from a T to C substitution at nucleotide position 7223. The leucine at codon 2408 is replaced by proline, an amino acid with similar properties. This amino acid position is not 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 alteration remains unclear.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769576 SCV000900973 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-07-21 criteria provided, single submitter clinical testing
GeneDx RCV001545385 SCV001764709 uncertain significance not provided 2020-01-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance but additional evidence is not available (ClinVar Variant ID# 477969; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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