ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys)

dbSNP: rs374103443
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244560 SCV001417789 benign Adams-Oliver syndrome 5 2024-09-09 criteria provided, single submitter clinical testing
GeneDx RCV001796412 SCV002032843 uncertain significance not provided 2021-06-08 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 has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 969258; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27535533, 26582918)
Genome-Nilou Lab RCV001244560 SCV002553344 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271199 SCV002553345 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348832 SCV002651206 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-08-14 criteria provided, single submitter clinical testing The p.E1826K variant (also known as c.5476G>A), located in coding exon 30 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 5476. The glutamic acid at codon 1826 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.

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