ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1020dup (p.Val341fs)

dbSNP: rs1555610905
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657241 SCV000778969 pathogenic not provided 2022-09-28 criteria provided, single submitter clinical testing Frameshift 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: 26509978, 21354044, 31776437, 18546366)
Labcorp Genetics (formerly Invitae), Labcorp RCV000809527 SCV000949680 pathogenic Neurofibromatosis, type 1 2024-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val341Cysfs*12) 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 a clinical diagnosis or suspicion of neurofibromatosis type 1 (PMID: 18546366). ClinVar contains an entry for this variant (Variation ID: 545745). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000809527 SCV001479244 pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000809527 SCV002561622 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507143 SCV002811706 pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-02-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459556 SCV004199005 pathogenic Juvenile myelomonocytic leukemia 2021-12-02 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004798851 SCV005420491 pathogenic Café-au-lait macules with pulmonary stenosis 2024-10-04 criteria provided, single submitter research PVS1,PS4mod,PM2

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