ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.7855del (p.Tyr2618_Leu2619insTer) (rs1554035316)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599580 SCV000710347 pathogenic not provided 2018-01-05 criteria provided, single submitter clinical testing The c.7855delC variant in the NIPBL has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.7855delC variant is not observed in large population cohorts (Lek et al., 2016). This amino acid deletion results in the replacement of a Leucine codon with a Stop codon at amino acid position 2619. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We classify c.7855delC as a pathogenic variant.

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