ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1393-2A>G (rs1555612266)

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Total submissions: 3
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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 RCV000582848 SCV000781906 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000582848 SCV001586972 pathogenic Neurofibromatosis, type 1 2020-08-02 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 12 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in several individuals with clinical features of neurofibromatosis type 1 (Invitae). ClinVar contains an entry for this variant (Variation ID: 492877). Donor and acceptor splice site variants 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.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000582848 SCV000692342 pathogenic Neurofibromatosis, type 1 2014-10-06 no assertion criteria provided clinical testing

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