ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4306G>T (p.Glu1436Ter)

dbSNP: rs876660428
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660053 SCV000782013 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000660053 SCV000833076 pathogenic Neurofibromatosis, type 1 2022-10-05 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with neurofibromatosis–Noonan syndrome and neurofibromatosis type 1 (PMID: 10712197, 16835897, 19845691). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 547643). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1415*) 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).
GeneDx RCV001592842 SCV001826133 pathogenic not provided 2019-07-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31776437, 16835897, 16380919, 25525159, 10712197)
Genome-Nilou Lab RCV000660053 SCV002560033 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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