ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1185+1_1185+5del

dbSNP: rs2143880646
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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 RCV001949499 SCV002243210 pathogenic Neurofibromatosis, type 1 2022-11-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change affects a splice site in intron 10 of the NF1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of 10, but is expected to preserve the integrity of the reading-frame (PMID: 10607834, 25788518). ClinVar contains an entry for this variant (Variation ID: 1458411). Disruption of this splice site has been observed in individuals with neurofibromatosis type 1 (PMID: 10607834, 16835897, 18546366, 26056819).

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