ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1152dup (p.Arg385fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003172353 SCV003861661 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-01-26 criteria provided, single submitter clinical testing The c.1152dupT pathogenic mutation, located in coding exon 10 of the NF1 gene, results from a duplication of T at nucleotide position 1152, causing a translational frameshift with a predicted alternate stop codon (p.R385Sfs*11). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003235791 SCV003932862 pathogenic Neurofibromatosis, type 1 2023-06-21 criteria provided, single submitter clinical testing

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