ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1260+1G>A (rs267606603)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000000384 SCV000542033 pathogenic Neurofibromatosis, type 1 2018-06-12 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 11 of the NF1 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with neurofibromatosis type 1 (PMID: 10677298, 22155606). ClinVar contains an entry for this variant (Variation ID: 356). Experimental studies have shown that this splice site variant results in the production of a truncated protein in an in vitro translation assay (PMID: 10677298). 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.
OMIM RCV000000384 SCV000020528 pathogenic Neurofibromatosis, type 1 2000-02-01 no assertion criteria provided literature only

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