ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.503C>G (p.Ser168Ter) (rs1131691994)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493132 SCV000583314 pathogenic not provided 2017-05-31 criteria provided, single submitter clinical testing The S168X nonsense variant in the NF1 gene has been observed previously in a patient with neurofibromatosis type 1; the variant is not listed in the publication itself but is listed in the Human Gene Mutation Database and was noted to be obtained via personal communication (vanMinkelen et al., 2014; Stenson et al., 2014). This variant 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; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, we consider this variant to be pathogenic.
Invitae RCV000707168 SCV000836253 pathogenic Neurofibromatosis, type 1 2019-06-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser168*) 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 been reported in an individual in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 430497). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001009566 SCV001169667 pathogenic Neurofibromatosis, type 1; Tibial pseudoarthrosis 2018-11-10 criteria provided, single submitter research

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