ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2326-1G>T

dbSNP: rs1567848100
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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 RCV001942493 SCV002129219 pathogenic Neurofibromatosis, type 1 2024-08-01 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 19 of the NF1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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). Disruption of this splice site has been observed in individual(s) with neurofibromatosis type 1 (PMID: 27838393). ClinVar contains an entry for this variant (Variation ID: 1364775). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001942493 SCV003807333 likely pathogenic Neurofibromatosis, type 1 2022-08-30 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PS4 supporting, PM2 moderated
GeneDx RCV003235607 SCV003932956 likely pathogenic not provided 2022-12-19 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); Deletions involving coding exons of this gene are a known mechanism of disease (HGMD); This variant is associated with the following publications: (PMID: 23913538, 10712197, 25486365, 27838393)

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