ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3197+489_3382del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700832 SCV000829605 likely pathogenic Neurofibromatosis, type 1 2018-05-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 25 and part of exon 26 (c.3197+489_3382del) of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NF1-related disease. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). 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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