ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6642+2T>C

dbSNP: rs2069709336
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233384 SCV001405974 pathogenic Neurofibromatosis, type 1 2022-10-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 42 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 individual(s) with clinical features of neurofibromatosis type 1 and/or neurofibromatosis type I (PMID: 16835897, 30124220, 31370276, 32873259). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 959944). Studies have shown that disruption of this splice site results in skipping of exon 42 and introduces a premature termination codon (PMID: 31370276). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.

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