ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5610-2A>T

dbSNP: rs1135402876
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Total submissions: 5
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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 RCV000497085 SCV000782056 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000497085 SCV001479120 pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000497085 SCV002560132 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Invitae RCV000497085 SCV003443066 pathogenic Neurofibromatosis, type 1 2022-03-16 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: 431660). Disruption of this splice site has been observed in individual(s) with neurofibromatosis type 1 (PMID: 26969325). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 37 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).
Medical Genetics, University of Parma RCV000497085 SCV000588804 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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