ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7027C>A (p.Arg2343=) (rs1567620403)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696263 SCV000824815 likely pathogenic Neurofibromatosis, type 1 2018-06-21 criteria provided, single submitter clinical testing This sequence change affects codon 2343 of the NF1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NF1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with Noonan-like clinical features (Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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