ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3826del (p.Arg1276fs)

dbSNP: rs2067188667
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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 RCV001225439 SCV001397720 pathogenic Neurofibromatosis, type 1 2019-08-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has been observed in an individual affected with neurofibromatosis type 1 (PMID: 25074460). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg1276Glufs*9) in the NF1 gene. It is expected to result in an absent or disrupted protein product.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001225439 SCV001478957 likely pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001225439 SCV002559993 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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