ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.888+2T>G

dbSNP: rs2066160116
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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 RCV001222911 SCV001395034 pathogenic Neurofibromatosis, type 1 2022-10-13 criteria provided, single submitter clinical testing 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: 951075). Disruption of this splice site has been observed in individuals with neurofibromatosis type 1 (PMID: 10712197, 20844836). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 8 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). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003227010 SCV003923380 pathogenic not provided 2023-05-04 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34580403, 10712197, 23913538, 20844836, 34439371)
NHS Central & South Genomic Laboratory Hub RCV001222911 SCV005393967 pathogenic Neurofibromatosis, type 1 2024-11-11 criteria provided, single submitter clinical testing
Pediatric Genetics Clinic, Sheba Medical Center RCV001788426 SCV001712203 pathogenic Café-au-lait macules with pulmonary stenosis 2021-05-13 no assertion criteria provided clinical testing

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