ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6173_6175ACA[1] (p.Asn2059del) (rs1057518096)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413535 SCV000491495 likely pathogenic not provided 2016-06-11 criteria provided, single submitter clinical testing The c.6176_6178delACA variant in the NOTCH1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.6176_6178delACA variant, denoted p.N2059del, causes in an inframe deletion of one amnio acid. The c.6176_6178delACA variant was not observed in approximately 6300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This deletion occurs at a position that is conserved across species. This variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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