ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.289C>T (p.Gln97Ter)

dbSNP: rs1597635615
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001009587 SCV001169688 pathogenic Neurofibromatosis, type 1; Tibial pseudarthrosis 2018-11-10 criteria provided, single submitter research
GeneDx RCV003324807 SCV004030537 pathogenic not provided 2023-02-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35053433, 35641267, Bracco2014[abstract], 31533797)
Invitae RCV003769419 SCV004631019 pathogenic Neurofibromatosis, type 1 2023-08-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln97*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of NF1-related conditions (PMID: 31533797). ClinVar contains an entry for this variant (Variation ID: 818189). For these reasons, this variant has been classified as Pathogenic.

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