ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2970_2971del (p.Met991fs) (rs1597716432)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820786 SCV000961514 pathogenic Neurofibromatosis, type 1 2018-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met991Aspfs*29) in the NF1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals with clinical features of neurofibromatosis type 1 (PMID: 12807981, 18546366, 25541118). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001017731 SCV001178859 pathogenic Hereditary cancer-predisposing syndrome 2018-11-02 criteria provided, single submitter clinical testing The c.2970_2971delAA pathogenic mutation, located in coding exon 22 of the NF1 gene, results from a deletion of two nucleotides at nucleotide positions 2970 to 2971, causing a translational frameshift with a predicted alternate stop codon (p.M991Dfs*29). This mutation has been reported in patient with neurofibromatosis type 1 (Ars E et al. J. Med. Genet. 2003 Jun;40:e82; Duat Rodríguez A et al. An. Pediatr. (Barc) 2015 Sep;83:173-82). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003808 SCV001162257 pathogenic Juvenile myelomonocytic leukemia; Cafe-au-lait spot no assertion criteria provided research

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