ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.688G>T (p.Glu230Ter)

dbSNP: rs2066138676
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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 RCV001055990 SCV001220407 pathogenic Neurofibromatosis, type 1 2023-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu230*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with clinical features of NF1-Noonan syndrome and/or neurofibromatosis, type 1 (NF1) (PMID: 11735023; Invitae). ClinVar contains an entry for this variant (Variation ID: 851567). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002508793 SCV002818163 pathogenic not provided 2022-12-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467781 SCV004190797 pathogenic Juvenile myelomonocytic leukemia 2022-07-20 criteria provided, single submitter clinical testing

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