ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3708+2dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003388706 SCV004100429 likely pathogenic Neurofibromatosis, type 1 criteria provided, single submitter clinical testing The splice region variant c.3708+2dupT in NF1 (NM_000267.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3708+2dupT variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The variant affects an invariant splice site and is predicted to disrupt splicing by all splice site algorithms. The nucleotide c.3708+2dupT in NF1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic.

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