ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3639_3641del (p.Met1215del) (rs1060500276)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467306 SCV000542040 likely pathogenic Neurofibromatosis, type 1 2016-05-22 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 27 of the NF1 mRNA (c.3639_3641delAAT). This leads to the deletion of 1 amino acid residue(s) in the NF1 protein (p.Met1215del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in multiple individuals affected with neurofibromatosis type 1 (PMID: 10712197, 16835897, 18546366). This variant is also known as 3643delATG in the literature. For these reasons, this variant has been classified as Likely Pathogenic.

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