ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6611G>A (p.Trp2204Ter) (rs1193716348)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000660099 SCV000782080 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000579375 SCV000680724 pathogenic not provided 2017-12-26 criteria provided, single submitter clinical testing The W2204X variant in the NF1 gene has been reported previously in an individual with a clinical diagnosis of NF1 (Pasmant et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W2204X variant is not observed in large population cohorts (Lek et al., 2016). We interpret W2204X as a pathogenic variant.

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