ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5368G>T (p.Glu1790Ter)

dbSNP: rs1597831990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810744 SCV000950977 pathogenic Neurofibromatosis, type 1 2018-09-11 criteria provided, single submitter clinical testing Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has been observed in an individual affected with neurofibromatosis type 1 (PMID: 23913538). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1769*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003467445 SCV004198983 pathogenic Juvenile myelomonocytic leukemia 2022-05-02 criteria provided, single submitter clinical testing

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