ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4057G>A (p.Gly1353Ser)

gnomAD frequency: 0.00001  dbSNP: rs761908188
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788866 SCV000928138 uncertain significance not provided 2018-12-23 criteria provided, single submitter clinical testing
Invitae RCV002535793 SCV003512825 benign Adams-Oliver syndrome 5 2022-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027373 SCV005027212 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-01-01 criteria provided, single submitter clinical testing The p.G1353S variant (also known as c.4057G>A), located in coding exon 25 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 4057. The glycine at codon 1353 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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.

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