ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6364+5G>A (rs1060500311)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476056 SCV000542090 uncertain significance Neurofibromatosis, type 1 2016-07-15 criteria provided, single submitter clinical testing This sequence change falls in intron 41 of the NF1 mRNA. It does not directly change the encoded amino acid sequence of the NF1 protein, but it affects a nucleotide within the consensus splice site of the intron. 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 has been reported de-novo in a patient affected with neurofibromatosis (PMID: 15833774), indicating that this nucleotide may be required for normal mRNA splicing. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000563412 SCV000670505 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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