ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.40dup (p.Ala14fs) (rs886041275)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000289950 SCV000329612 pathogenic not provided 2015-05-01 criteria provided, single submitter clinical testing The c.40dupG variant in the NIPBL gene causes a frameshift starting with codon Alanine 14, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Ala14GlyfsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.40dupG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

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