ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3197+1G>A

dbSNP: rs1555614653
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598872 SCV000709953 likely pathogenic not provided 2023-06-15 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); Not observed at significant frequency in large population cohorts (gnomAD); Also known as IVS19a+1G>A; This variant is associated with the following publications: (PMID: 25525159, 18546366, 10607834)
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660028 SCV000781974 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000660028 SCV002559936 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Invitae RCV000660028 SCV003442619 pathogenic Neurofibromatosis, type 1 2023-03-29 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 24 of the NF1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 24, but is expected to preserve the integrity of the reading-frame (PMID: 10607834). ClinVar contains an entry for this variant (Variation ID: 503702). This variant is also known as IVS19a+1G>A. Disruption of this splice site has been observed in individual(s) with neurofibromatosis type 1 (PMID: 10607834; Invitae).

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