ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5118del (p.Val1707fs)

dbSNP: rs1597830046
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853240 SCV000996053 likely pathogenic Neurofibromatosis, type 1 2016-12-09 criteria provided, single submitter clinical testing The c.5118delT (p.Val1707PhefsTer3) variant is a frameshifting variant that is predicted to result in the premature truncation of the NF1 protein. This variant was not previously reported in the literature and/or found in the 1000 Genomes, Exome Variant Server (EVS), and Exome Aggregation Consortium (ExAC) databases. Thus it is presumed to be rare. Based on the predicted functional impact of this frameshifting variant, the p.Val1707PhefsTer3 variant is classified as likely pathogenic.

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