Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002402814 | SCV002704549 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2022-07-27 | criteria provided, single submitter | clinical testing | The p.E547* pathogenic mutation (also known as c.1639G>T), located in coding exon 14 of the NF1 gene, results from a G to T substitution at nucleotide position 1639. This changes the amino acid from a glutamic acid to a stop codon within coding exon 14. This variant was identified in 1 of 565 unrelated French probands with clinical diagnoses or suspicion of NF1 (Sabbagh A et al. Hum Mutat, 2013 Nov;34:1510-8). 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. |
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, |
RCV001293725 | SCV001482378 | pathogenic | Neurofibromatosis, type 1 | 2019-05-31 | no assertion criteria provided | research |