ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6858G>A (p.Lys2286=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694532 SCV000822982 likely pathogenic Neurofibromatosis, type 1 2018-11-19 criteria provided, single submitter clinical testing This sequence change affects codon 2286 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 also falls at the last nucleotide of exon 45 of the NF1 coding sequence, which is part of the consensus splice site for this exon. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with neurofibromatosis type 1 (NF1) in a family (Invitae) and has been reported in an individual with clinical features of NF1 (PMID: 27074763). This variant is also known as c.6921G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 572995). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this sequence change causes aberrant splicing (PMID: 27074763). 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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