ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6259C>T (p.Arg2087Trp)

gnomAD frequency: 0.00001  dbSNP: rs373806373
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733892 SCV000861995 uncertain significance not provided 2018-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360860 SCV002658799 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-12-03 criteria provided, single submitter clinical testing The p.R2087W variant (also known as c.6259C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 6259. The arginine at codon 2087 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly 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 RCV002535356 SCV003447823 likely benign Adams-Oliver syndrome 5 2023-11-11 criteria provided, single submitter clinical testing

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