ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp)

gnomAD frequency: 0.00001  dbSNP: rs758410389
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310938 SCV000319561 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-04-04 criteria provided, single submitter clinical testing The p.R2431W variant (also known as c.7291C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 7291. The arginine at codon 2431 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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.
Invitae RCV001854978 SCV002208898 benign Adams-Oliver syndrome 5 2023-06-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001854978 SCV002555206 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270158 SCV002555207 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV003320625 SCV004025736 uncertain significance not provided 2023-02-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function

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