ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4836-1G>A

dbSNP: rs1057518326
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413606 SCV000491870 pathogenic not provided 2022-10-27 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); Also known as c.4836-1G>A; This variant is associated with the following publications: (PMID: 33953802, 27074763)
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000497194 SCV000782036 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000497194 SCV002560092 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Invitae RCV000497194 SCV003442715 pathogenic Neurofibromatosis, type 1 2022-11-25 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 35 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. 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: 373285). Disruption of this splice site has been observed in individuals with neurofibromatosis type 1 (PMID: 27074763; Invitae). This variant is not present in population databases (gnomAD no frequency).
Revvity Omics, Revvity RCV000413606 SCV003816961 likely pathogenic not provided 2023-01-30 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV000497194 SCV000588791 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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