ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.731-1G>C

dbSNP: rs1555608928
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386020 SCV001586100 pathogenic Neurofibromatosis, type 1 2022-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1073116). Disruption of this splice site has been observed in individual(s) with neurofibromatosis (PMID: 19061981; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 7 of the NF1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538).
Human Genetics Bochum, Ruhr University Bochum RCV002463812 SCV002758571 pathogenic Neurofibromatosis-Noonan syndrome 2022-10-11 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM2, PS4
Baylor Genetics RCV003463010 SCV004198330 pathogenic Juvenile myelomonocytic leukemia 2024-01-22 criteria provided, single submitter clinical testing
Laboratory for Genotyping Development, RIKEN RCV003169948 SCV002758174 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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