Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000992435 | SCV001144745 | likely pathogenic | not provided | 2019-08-13 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/282466 chr). |
Ambry Genetics | RCV002391050 | SCV002668662 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-06-02 | criteria provided, single submitter | clinical testing | The c.7584delA pathogenic mutation, located in coding exon 51 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 7584, causing a translational frameshift with a predicted alternate stop codon (p.D2529Tfs*20). This alteration has been described in an individual with at least 5 cafe-au-lait macules (Castellanos E et al. Clin Genet, 2020 02;97:264-275). 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. |