ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1591G>A (p.Glu531Lys)

dbSNP: rs937879671
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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 RCV002398445 SCV002709705 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-07-01 criteria provided, single submitter clinical testing The p.E531K variant (also known as c.1591G>A), located in coding exon 10 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 1591. The glutamic acid at codon 531 is replaced by lysine, 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.
GeneDx RCV003322917 SCV004028413 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; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV003586363 SCV004267039 likely benign Adams-Oliver syndrome 5 2023-06-21 criteria provided, single submitter clinical testing

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