ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6508dup (p.Leu2170fs) (rs1555725058)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599425 SCV000710155 pathogenic not provided 2017-11-17 criteria provided, single submitter clinical testing The c.6508dupC variant in the NOTCH3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.6508dupC variant causes a frameshift starting with codon Leucine 2170, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 72 of the new reading frame, denoted p.Leu2170ProfsX72. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 152 amino acids are lost and replaced with 71 incorrect amino acids. Furthermore, the c.6508dupC variant is not observed in large population cohorts (Lek et al., 2016).

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