ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer)

dbSNP: rs2151470108
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001884129 SCV002151283 pathogenic Neurofibromatosis, type 1 2021-10-04 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 with NF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1566*) 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).
Fulgent Genetics, Fulgent Genetics RCV002478255 SCV002788487 likely pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-08-09 criteria provided, single submitter clinical testing

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