ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1641+1G>A (rs1555612866)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529214 SCV000628378 likely pathogenic Neurofibromatosis, type 1 2017-03-21 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 14 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NF1-related disease. A different variant affecting this nucleotide (c.1641+1G>T) was reported in an individual affected with neurofibromatosis, type 1 (PMID: 10712197). In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function 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.
MutSpliceDB: a database of splice sites variants effects on splicing,NIH RCV000786797 SCV000925687 not provided not provided no assertion provided in vitro

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