ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1722-1G>A (rs1567845818)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681123 SCV000808581 likely pathogenic not provided 2018-02-19 criteria provided, single submitter clinical testing This variant is denoted NF1 c.1722-1G>A or IVS15-1G>A and consists of a G>A nucleotide substitution at the -1 position of intron 15 of the NF1 gene. This variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has been reported in an individual with reported neurofibromatosis type 1 (Osborn 1999). Based on currently available evidence, we consider NF1 c.1722-1G>A to be a likely pathogenic variant.

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