ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met)

gnomAD frequency: 0.00001  dbSNP: rs746237272
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310923 SCV000319509 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-03-26 criteria provided, single submitter clinical testing The p.T1897M variant (also known as c.5690C>T), located in coding exon 31 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 5690. The threonine at codon 1897 is replaced by methionine, an amino acid with some similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6245 samples (12490 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrates, however methionine is the reference amino acid in one 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 variant remains unclear.
Invitae RCV000687731 SCV000815316 benign Adams-Oliver syndrome 5 2023-09-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000687731 SCV002553329 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270157 SCV002553330 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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