ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2034delinsCA (p.Ile679fs)

dbSNP: rs1064796331
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485853 SCV000572937 pathogenic not provided 2023-03-22 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Apparently de novo variant in a patient with Neurofibromatosis type 1 (Bonatti et al., 2017) and observed in multiple unrelated patients with a personal or family history consistent with pathogenic variants in this gene at GeneDx; This variant is associated with the following publications: (PMID: 28961165)
Ambry Genetics RCV002420238 SCV002719649 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-03-20 criteria provided, single submitter clinical testing The c.2034delGinsCA pathogenic mutation, located in coding exon 18 of the NF1 gene, results from the deletion of one nucleotide and insertion of two nucleotides at position 2034, causing a translational frameshift with a predicted alternate stop codon (p.I679Nfs*21). This mutation has been detected in a female patient with features of neurofibromatosis type 1, including cafe au lait patches and axillary or groin freckling (Bonatti F et al. Int J Mol Sci 2017 Sep;18(10)). 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.
Medical Genetics, University of Parma RCV000497093 SCV000588741 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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