ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3552C>T (p.Ile1184=)

gnomAD frequency: 0.00003  dbSNP: rs773375573
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697912 SCV000724226 likely benign not provided 2019-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456370 SCV002616544 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-03-23 criteria provided, single submitter clinical testing The c.3552C>T variant (also known as p.I1184I), located in coding exon 22 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 3552. This nucleotide substitution does not change the isoleucine at codon 1184. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003586200 SCV004291709 likely benign Adams-Oliver syndrome 5 2023-12-13 criteria provided, single submitter clinical testing

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