ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1186-2A>G

dbSNP: rs1373365576
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001527317 SCV001738284 pathogenic not provided 2023-10-27 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Deletions involving coding exons of this gene are a known mechanism of disease (HGMD); Reported in an individual with NF1 and pseudoarthrosis of the tibia in published literature (PMID: 31066482); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24077912, 31066482)
Labcorp Genetics (formerly Invitae), Labcorp RCV001882572 SCV002264379 likely pathogenic Neurofibromatosis, type 1 2024-03-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 10 of the NF1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in the loss of 5 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. 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 1 (PMID: 31766501; Invitae). ClinVar contains an entry for this variant (Variation ID: 1173030). Studies have shown that disruption of this splice site results in the activation of a cryptic splice site in exon 11 (PMID: 31766501). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Genome-Nilou Lab RCV001882572 SCV002561639 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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