ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.4512dup (p.Pro1505fs) (rs1554022466)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599238 SCV000710289 pathogenic not provided 2017-12-27 criteria provided, single submitter clinical testing The c.4512dupA pathogenic variant in the NIPBL gene causes a frameshift starting with codon Proline 1505, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Pro1505ThrfsX8. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4512dupA variant is not observed in large population cohorts (Lek et al., 2016).

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