ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.*5C>T

gnomAD frequency: 0.00014  dbSNP: rs746945124
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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 RCV002311197 SCV000320485 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-11-09 criteria provided, single submitter clinical testing The c.*5C>T variant is located in the 3' untranslated region (3’ UTR) of the NOTCH1 gene. This variant results from a C to T substitution five bases downstream of the last translated codon. 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 6004 samples (12008 alleles) with coverage at this position. This nucleotide position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
GeneDx RCV001549855 SCV001770083 likely benign not provided 2019-08-19 criteria provided, single submitter clinical testing

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