ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1648T>G (p.Tyr550Asp)

gnomAD frequency: 0.00001  dbSNP: rs1843262478
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335842 SCV001529084 uncertain significance Adams-Oliver syndrome 5 2018-07-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV005054361 SCV005688542 uncertain significance not provided 2024-08-01 criteria provided, single submitter clinical testing 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; Has not been previously published as pathogenic or benign to our knowledge
Daryl Scott Lab, Baylor College of Medicine RCV005256775 SCV005911503 uncertain significance NOTCH1-related disorder 2024-04-01 criteria provided, single submitter clinical testing PM2, PP3
Ambry Genetics RCV005372653 SCV006039543 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2025-02-15 criteria provided, single submitter clinical testing The p.Y550D variant (also known as c.1648T>G), located in coding exon 10 of the NOTCH1 gene, results from a T to G substitution at nucleotide position 1648. The tyrosine at codon 550 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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