ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7838dup (p.Lys2614fs)

dbSNP: rs1131691129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311256 SCV000581356 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2016-11-02 criteria provided, single submitter clinical testing The c.7775dupC pathogenic mutation, located in coding exon 52 of the NF1 gene, results from a duplication of C at nucleotide position 7775, causing a translational frameshift with a predicted alternate stop codon (p.K2593Efs*20). This mutation has been reported in one individual with a clinical diagnosis of neurofibromatosis type 1 (Pasmant E et al. Eur. J. Hum. Genet., 2015 May;23:596-601). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Medical Genetics, University of Parma RCV000497158 SCV000588842 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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