ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.479+1G>C

dbSNP: rs1555606137
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221190 SCV001393216 pathogenic Neurofibromatosis, type 1 2022-04-28 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with neurofibromatosis type 1 (PMID: 18546366, 23913538; Invitae). This sequence change affects a donor splice site in intron 4 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). ClinVar contains an entry for this variant (Variation ID: 949678). 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.

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