ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6560_6563dup (p.Leu2189fs) (rs1599359388)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008372 SCV001168140 pathogenic not provided 2018-10-16 criteria provided, single submitter clinical testing The c.6560_6563dupTGCC variant in the NOTCH3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Leucine 2189, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 54 of the new reading frame, denoted p.Leu2189AlafsX54. The c.6560_6563dupTGCC variant, located in the last exon of the NOTCH3 gene, is predicted to cause loss of normal protein function through protein truncation. This variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.6560_6563dupTGCC as a pathogenic variant.

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