ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7287del (p.Phe2429fs)

dbSNP: rs1135402902
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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 RCV002420267 SCV001188503 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-04-08 criteria provided, single submitter clinical testing The c.7224delT pathogenic mutation, located in coding exon 48 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 7224, causing a translational frameshift with a predicted alternate stop codon (p.F2408Lfs*3). This alteration has been previously identified in one individual from an Italian neurofibromatosis type 1 (NF1) cohort (Bonatti F et al. Int J Mol Sci, 2017 Sep;18). 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 RCV000497199 SCV000588834 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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