ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3712G>T (p.Glu1238Ter) (rs1060500346)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469700 SCV000542158 pathogenic Neurofibromatosis, type 1 2016-06-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1238 (p.Glu1238*) of the NF1 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating 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 RCV001009593 SCV001169694 pathogenic Neurofibromatosis, type 1; Tibial pseudoarthrosis 2018-11-10 criteria provided, single submitter research

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