ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6692del (p.Pro2231fs) (rs773656789)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598948 SCV000710617 likely pathogenic not provided 2018-02-02 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the NOTCH3 gene. The c.6692delC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.6692delC variant causes a frameshift starting with codon Proline 2231, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Pro2231GlnfsX15. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 91 amino acids are replaced with 14 incorrect amino acids. The c.6692delC variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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