ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4515del (p.Ala1506fs)

dbSNP: rs2151464719
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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 RCV001916957 SCV002194781 pathogenic Neurofibromatosis, type 1 2021-10-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 31776437). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala1485Leufs*68) 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 RCV005016853 SCV005646762 pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-05-13 criteria provided, single submitter clinical testing

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