ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4031C>G (p.Thr1344Arg)

dbSNP: rs201215245
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770631 SCV000902082 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000770631 SCV002619753 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-04-28 criteria provided, single submitter clinical testing The p.T1344R variant (also known as c.4031C>G), located in coding exon 25 of the NOTCH1 gene, results from a C to G substitution at nucleotide position 4031. The threonine at codon 1344 is replaced by arginine, an amino acid with similar properties. Another alteration affecting the same amino acid, p.T1344M (c.4031C>T), has been reported in association with congenital heart disease (Kerstjens-Frederikse WS et al. Genet. Med., 2016 09;18:914-23). This amino acid position is 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.
Invitae RCV002536610 SCV003274941 benign Adams-Oliver syndrome 5 2023-09-03 criteria provided, single submitter clinical testing

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