ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2560C>T (p.Gln854Ter) (rs1555614261)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000660015 SCV000781956 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000760742 SCV000890635 pathogenic not provided 2018-09-20 criteria provided, single submitter clinical testing The Q854X nonsense variant in the NF1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). Although this variant has not been reported previously as a germline variant to our knowledge, we consider it to be pathogenic.
Invitae RCV000660015 SCV000957096 pathogenic Neurofibromatosis, type 1 2018-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln854*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF1-related disease. ClinVar contains an entry for this variant (Variation ID: 547612). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.

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