ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6365C>T (p.Pro2122Leu)

gnomAD frequency: 0.00002  dbSNP: rs767587816
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468254 SCV000548953 benign Adams-Oliver syndrome 5 2023-06-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365638 SCV002659045 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-05-18 criteria provided, single submitter clinical testing The p.P2122L variant (also known as c.6365C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 6365. The proline at codon 2122 is replaced by leucine, an amino acid with similar properties. This variant was detected in a proband with extracranial artery dissections, and a parent with thoracic aortic aneurysm (Guevara C et al. Front Neurol. 2017;8:245). 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.

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