ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1729del (p.Met577fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003598236 SCV004376678 pathogenic Neurofibromatosis, type 1 2023-01-20 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis, type 1 (PMID: 31776437). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met577Cysfs*9) 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). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV004558172 SCV005048558 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-08-03 criteria provided, single submitter clinical testing The c.1729delA pathogenic mutation, located in coding exon 16 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 1729, causing a translational frameshift with a predicted alternate stop codon (p.M577Cfs*9). This alteration was identified in a cohort of 427 Korean patients with a confirmed or suspected clinical diagnosis of neurofibromatosis type 1 (Kang E et al. J Hum Genet, 2020 Jan;65:79-89). 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.
Baylor Genetics RCV004574159 SCV005052309 pathogenic Juvenile myelomonocytic leukemia 2023-12-02 criteria provided, single submitter clinical testing

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