Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660061 | SCV000782029 | likely pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334224 | SCV002638627 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-08-11 | criteria provided, single submitter | clinical testing | The c.4595delC variant, located in coding exon 34 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 4595, causing a translational frameshift with a predicted alternate stop codon (p.P1532Lfs*21). 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. |