ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4367+1G>C (rs773151680)

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Total submissions: 2
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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 RCV000660057 SCV000782024 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000660057 SCV001387594 pathogenic Neurofibromatosis, type 1 2019-05-16 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 32 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 individuals affected with clinical features of neurofibromatosis type 1 (PMID: 29952103, 12807981, 25325900). This nucleotide is also referred to as c.4430+1 and IVS25+1 in the literature. ClinVar contains an entry for this variant (Variation ID: 547645). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 29952103). 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.

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