ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.700C>T (p.Arg234Cys)

gnomAD frequency: 0.00001  dbSNP: rs567890045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001323076 SCV001513977 likely benign Adams-Oliver syndrome 5 2024-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002366190 SCV002661967 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-10-08 criteria provided, single submitter clinical testing The p.R234C variant (also known as c.700C>T), located in coding exon 4 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 700. The arginine at codon 234 is replaced by cysteine, an amino acid with highly 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.

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