ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4561dup (p.Tyr1521fs)

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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 RCV002328655 SCV002635393 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-03-31 criteria provided, single submitter clinical testing The c.4498dupT pathogenic mutation, located in coding exon 33 of the NF1 gene, results from a duplication of T at nucleotide position 4498, causing a translational frameshift with a predicted alternate stop codon (p.Y1500Lfs*9). This variant was not reported in population-based 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 RCV003445170 SCV004174167 pathogenic Neurofibromatosis, type 1 2023-12-06 criteria provided, single submitter clinical testing

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