ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6579+1G>T (rs1060500345)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000458814 SCV000782076 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000458814 SCV000542156 likely pathogenic Neurofibromatosis, type 1 2016-11-02 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 42 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in the literature in two individuals affected with neurofibromatosis type 1 (PMID: 23913538). In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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