ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.205-2A>G

dbSNP: rs1597629679
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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 RCV000808377 SCV000948485 pathogenic Neurofibromatosis, type 1 2024-12-20 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 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 individuals with juvenile myelomonocytic leukemia (JMML) and/or neurofibromatosis type 1 (NF1) (PMID: 22155606, 23222849; internal data). ClinVar contains an entry for this variant (Variation ID: 652752). 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.
GeneDx RCV001585736 SCV001813809 pathogenic not provided 2021-01-06 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.; Deletions involving coding exons of this gene are a known mechanism of disease (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 24077912, 23913538, 23222849, 22155606)
Genome-Nilou Lab RCV000808377 SCV002561556 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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