ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2850+1G>C

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003064421 SCV003442617 pathogenic Neurofibromatosis, type 1 2022-05-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 21 of the NF1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with neurofibromatosis type I (PMID: 25480383, 27074763). Studies have shown that disruption of this splice site results in skipping of exon 21 and introduces a premature termination codon (PMID: 27074763). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003465931 SCV004199003 likely pathogenic Juvenile myelomonocytic leukemia 2021-12-27 criteria provided, single submitter clinical testing
GeneDx RCV004719291 SCV005325771 pathogenic not provided 2024-03-01 criteria provided, single submitter clinical testing Canonical splice site variant demonstrated to result in aberrant splicing in a gene for which loss of function is a known mechanism of disease (PMID: 27074763); Identified in a patient with clinical suspicion of neurofibromatosis type 1 in published literature (PMID: 27074763); Deletions involving coding exons of this gene are a known mechanism of disease (HGMD; other references); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 2121369, 25486365, 27074763)

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