ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4578-2A>G

dbSNP: rs1555618996
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541202 SCV000628602 pathogenic Neurofibromatosis, type 1 2024-08-15 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 33 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 I (PMID: 10712197, 10862084). ClinVar contains an entry for this variant (Variation ID: 457705). Studies have shown that disruption of this splice site results in activation of cryptic splice sites and introduces a premature termination codon (PMID: 10862084; Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Genomics England Pilot Project, Genomics England RCV001542605 SCV001760400 pathogenic Neurofibromatosis-Noonan syndrome no assertion criteria provided clinical testing

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