ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter)

dbSNP: rs2069329774
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001865056 SCV002118465 pathogenic Neurofibromatosis, type 1 2024-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1640*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 23913538). ClinVar contains an entry for this variant (Variation ID: 1360877). For these reasons, this variant has been classified as Pathogenic.
3billion, Medical Genetics RCV001865056 SCV002521760 pathogenic Neurofibromatosis, type 1 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with NF1- related disorder (PMID: 23913538). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Genome-Nilou Lab RCV001865056 SCV002560096 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503411 SCV002794148 likely pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-01-05 criteria provided, single submitter clinical testing
GeneDx RCV003232440 SCV003929669 pathogenic not provided 2025-01-15 criteria provided, single submitter clinical testing Nonsense 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: 23913538)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001865056 SCV005415732 pathogenic Neurofibromatosis, type 1 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PS4_Supporting+PP4+PM6_Supporting

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