ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.382C>T (p.Arg128Cys)

gnomAD frequency: 0.00005  dbSNP: rs371868900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804334 SCV000944238 benign Adams-Oliver syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028168 SCV003737658 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-07-20 criteria provided, single submitter clinical testing The p.R128C variant (also known as c.382C>T), located in coding exon 3 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 382. The arginine at codon 128 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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.

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