ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1063-2A>G (rs1060500358)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599201 SCV000709951 likely pathogenic not provided 2018-02-09 criteria provided, single submitter clinical testing The c.1063-2A>G variant in the NF1 gene has been reported in multiple individuals clinically diagnosed with, or suspicious for, neurofibromatosis type 1 (Upadhyaya et al., 2004; Upadhyaya et al., 2006; Pros et al., 2008; Laycock-van Spyk et al., 2011; Pasmant et al., 2015). This variant destroys the canonical splice acceptor site of intron 9 which is predicted to cause abnormal gene splicing. Based on currently available evidence, we consider c.1063-2A>G to be a likely pathogenic variant.
Invitae RCV000471389 SCV000542178 pathogenic Neurofibromatosis, type 1 2016-10-04 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 9 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 individuals affected with neurofibromatosis type 1 (PMID: 14722917, 18546366, 25074460). Intron 9 is also known as intron 7 in the literature and this variant is also known as IVS7-2A>G. 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). For these reasons, this variant has been classified as Pathogenic.

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