ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7210C>T (p.Gln2404Ter) (rs1554826400)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578841 SCV000681000 uncertain significance not specified 2017-07-11 criteria provided, single submitter clinical testing The Q2404X variant has not beenpublished in association with a cardiovascular phenotype to our knowledge. Furthermore, it is not observed in largepopulation cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q2404Xvariant is predicted to result in protein truncation of the C terminus by 152 amino acids. However, no otherdownstream nonsense variants in the NOTCH1 gene, and only one downstream frameshift variant in the NOTCH1gene, have been reported in the Human Gene Mutation Database in association with cardiac disease (Stenson et al.,2014). Therefore, the effect of protein truncation in this region of the protein is uncertain.

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