ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4747G>T (p.Glu1583Ter)

dbSNP: rs2067765099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247894 SCV001421345 pathogenic Neurofibromatosis, type 1 2019-10-31 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 reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1562*) in the NF1 gene. It is expected to result in an absent or disrupted protein product.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001247894 SCV001479002 pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001247894 SCV002560086 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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