ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met)

gnomAD frequency: 0.00005  dbSNP: rs764921648
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002048299 SCV002305544 benign Adams-Oliver syndrome 5 2022-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002441217 SCV002747286 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-02-06 criteria provided, single submitter clinical testing The p.T928M variant (also known as c.2783C>T), located in coding exon 18 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 2783. The threonine at codon 928 is replaced by methionine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species, and methionine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002498052 SCV002792045 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2021-10-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130678 SCV003815983 uncertain significance not provided 2019-05-16 criteria provided, single submitter clinical testing

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