ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3114-2A>G (rs1428885377)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000680819 SCV000808266 likely pathogenic not provided 2017-08-07 criteria provided, single submitter clinical testing This variant is denoted NF1 c.3114-2A>G or IVS23-2A>G and consists of an A>G nucleotide substitution at the -2 position of intron 23 of the NF1 gene. Using alternate nomenclature, this variant has also been reported as NF1 IVS18-2A>G. This variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has been reported in at least one individual with neurofibromatosis type 1 (NF1) (Xu 2014). Based on the currently available information, we consider NF1 c.3114-2A>G to be a likely pathogenic variant.
Invitae RCV000559176 SCV000628489 likely pathogenic Neurofibromatosis, type 1 2017-04-10 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 23 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This particular variant has been reported in the literature in an individual with definite or suspected NF1 (PMID: 24789688). 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.

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