ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1721+1G>C

dbSNP: rs1131691096
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712400 SCV000842881 pathogenic not provided 2018-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868326 SCV002135129 pathogenic Neurofibromatosis, type 1 2024-11-12 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 15 of the NF1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or altered 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 1 (PMID: 12552569, 18546366, 23913538). This variant is also known as exon 11. ClinVar contains an entry for this variant (Variation ID: 586169). Studies have shown that disruption of this splice site results in skipping of exon 15 (also known as exon 11 in the literature), and produces a non-functional protein and/or introduces a premature termination codon (PMID: 23913538). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001868326 SCV002561694 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV000712400 SCV004168693 pathogenic not provided 2023-04-06 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele 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: 18546366, 12552569, 23913538)

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