ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5609+2T>G

dbSNP: rs2069386858
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064846 SCV001229773 pathogenic Neurofibromatosis, type 1 2023-12-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 37 of the NF1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with neurofibromatosis type 1 (PMID: 10712197). ClinVar contains an entry for this variant (Variation ID: 858870). Studies have shown that disruption of this splice site results in skipping of exon 37 and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.

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