ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3383C>T (p.Thr1128Met)

dbSNP: rs1340595829
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002451842 SCV002616129 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-09-26 criteria provided, single submitter clinical testing The p.T1128M variant (also known as c.3383C>T), located in coding exon 21 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 3383. The threonine at codon 1128 is replaced by methionine, an amino acid with similar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003586331 SCV004353502 likely benign Adams-Oliver syndrome 5 2024-08-05 criteria provided, single submitter clinical testing

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