ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.5624C>G (p.Ser1875Ter) (rs1135402879)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000497076 SCV000960648 pathogenic Neurofibromatosis, type 1 2019-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1875*) 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 observed in individuals with suspected diagnosis of neurofibromatosis type 1 (PMID: 26458495). ClinVar contains an entry for this variant (Variation ID: 431663). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001024336 SCV001186333 pathogenic Hereditary cancer-predisposing syndrome 2018-07-05 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Other data supporting pathogenic classification;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Medical Genetics, University of Parma RCV000497076 SCV000588807 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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