ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4436dup (p.Leu1480fs)

dbSNP: rs1555618803
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627457 SCV000748457 pathogenic not provided 2024-06-03 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); This variant is associated with the following publications: (PMID: 31347283)
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002060706 SCV002320844 pathogenic Neurofibromatosis, type 1 2022-01-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002060706 SCV002560055 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559258 SCV005048180 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-04-25 criteria provided, single submitter clinical testing The c.4373dupT pathogenic mutation, located in coding exon 33 of the NF1 gene, results from a duplication of T at nucleotide position 4373, causing a translational frameshift with a predicted alternate stop codon (p.L1459Pfs*2). This alteration has been observed in individuals with a personal and/or family history that is consistent with NF1-related disease (Ambry internal data) (Chen L et al. Mol Genet Genomic Med, 2019 Sep;7:e904). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.

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