ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5062G>T (p.Glu1688Ter)

dbSNP: rs1135402869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000497154 SCV002061741 pathogenic Neurofibromatosis, type 1 2021-11-23 criteria provided, single submitter clinical testing PVS1, PS4_Supporting, PM2
Invitae RCV000497154 SCV003441804 pathogenic Neurofibromatosis, type 1 2023-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 431652). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type I (PMID: 16835897). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1667*) 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).
Medical Genetics, University of Parma RCV000497154 SCV000588796 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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