ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2251+2T>G (rs864622142)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204317 SCV000259446 likely pathogenic Neurofibromatosis, type 1 2015-07-16 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 18. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Likely Pathogenic.

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