ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5971_5978del (p.Ile1992fs)

dbSNP: rs1597840273
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797588 SCV000937152 pathogenic Neurofibromatosis, type 1 2018-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1971Lysfs*14) 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 an individual affected with neurofibromatosis type 1 (PMID: 21354044). 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 RCV002352337 SCV002652585 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-08-20 criteria provided, single submitter clinical testing The c.5908_5915delTCTATTCA pathogenic mutation, located in coding exon 39 of the NF1 gene, results from a deletion of 8 nucleotides at nucleotide positions 5908 to 5915, causing a translational frameshift with a predicted alternate stop codon (p.I1971Kfs*14). This mutation has been reported in an individual meeting NIH diagnostic criteria for neurofibromatosis type 1 (Valero M et al. J Mol Diagn 2011 Mar;13(2):113-22). 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.

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