ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser)

gnomAD frequency: 0.00003  dbSNP: rs1379596542
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693849 SCV000822270 benign Adams-Oliver syndrome 5 2022-12-06 criteria provided, single submitter clinical testing
GeneDx RCV001546581 SCV001766119 uncertain significance not provided 2021-04-14 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 (ClinVar Variant ID# 560621; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Genome-Nilou Lab RCV000693849 SCV002553556 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270958 SCV002553557 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442404 SCV002732233 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-01-10 criteria provided, single submitter clinical testing The p.P820S variant (also known as c.2458C>T), located in coding exon 15 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 2458. The proline at codon 820 is replaced by serine, 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.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678730 SCV000804902 uncertain significance Chronic adenoiditis 2016-10-05 no assertion criteria provided clinical testing

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