ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1576_1579del (p.Ile526fs)

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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 RCV002933406 SCV003267849 pathogenic Neurofibromatosis, type 1 2021-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile526Glnfs*29) 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 variant has not been reported in the literature in individuals affected with NF1-related conditions. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004798012 SCV005419590 pathogenic not provided 2024-05-30 criteria provided, single submitter clinical testing Frameshift 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: 35240321)

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