ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3989G>A (p.Arg1330His)

gnomAD frequency: 0.00004  dbSNP: rs1180096756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001373649 SCV001570376 benign Adams-Oliver syndrome 5 2023-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002357275 SCV002622467 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-03-22 criteria provided, single submitter clinical testing The p.R1330H variant (also known as c.3989G>A), located in coding exon 24 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3989. The arginine at codon 1330 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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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