ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.5844_5845del (p.Arg1949fs) (rs863224835)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200729 SCV000255281 pathogenic Neurofibromatosis, type 1 2019-01-09 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 39 of the NF1 mRNA (c.5844_5845delAA), causing a frameshift at codon 1949. This creates a premature translational stop signal (p.Arg1949Serfs*6) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic. This particular variant has been reported in the literature in an individual with neurofibromatosis type I (PMID: 8069310, 16835897). This variant is also known as 5843delAA in the literature. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000492418 SCV000581252 pathogenic Hereditary cancer-predisposing syndrome 2014-08-12 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Medical Genetics, University of Parma RCV000200729 SCV000588810 pathogenic Neurofibromatosis, type 1 2019-12-20 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000200729 SCV000925588 pathogenic Neurofibromatosis, type 1 2019-06-25 criteria provided, single submitter clinical testing

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