ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1934dup (p.Met645fs)

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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 RCV002824316 SCV003205633 pathogenic Neurofibromatosis, type 1 2022-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met645Ilefs*4) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538).
Ambry Genetics RCV004559975 SCV005048592 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-11-22 criteria provided, single submitter clinical testing The c.1934dupT pathogenic mutation, located in coding exon 17 of the NF1 gene, results from a duplication of T at nucleotide position 1934, causing a translational frameshift with a predicted alternate stop codon (p.M645Ifs*4). 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.

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