ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7505_7508dup (p.Tyr2503Ter)

dbSNP: rs1597862086
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008052 SCV001167785 pathogenic not provided 2018-11-29 criteria provided, single submitter clinical testing The c.7442_7445dupGATA nonsense variant in the NF1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant has not been reported previously to our knowledge. The c.7442_7445dupGATA variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.

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