ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5269-2A>G

dbSNP: rs1555533548
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660074 SCV000782044 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000660074 SCV002139803 pathogenic Neurofibromatosis, type 1 2022-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site is associated with altered splicing resulting in an unknown protein product impact (Invitae). This sequence change affects an acceptor splice site in intron 36 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with neurofibromatosis type 1 (PMID: 10980545, 18546366, 25325900, 26056819; Invitae). ClinVar contains an entry for this variant (Variation ID: 547657).
Genome-Nilou Lab RCV000660074 SCV002560107 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV002275124 SCV002562275 pathogenic not provided 2022-10-13 criteria provided, single submitter clinical testing Canonical splice site variant demonstrated to result in a null allele in a gene for which loss of function is a known mechanism of disease (Pros et al., 2008); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26056819, 16937374, 18021924, 18546366, 10980545)

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