ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6410C>A (p.Ser2137Ter)

dbSNP: rs2069691055
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040061 SCV001203616 pathogenic Neurofibromatosis, type 1 2019-05-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2116*) 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 not been reported in the literature in individuals with NF1-related conditions. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.

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