Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001011903 | SCV001172285 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2019-06-21 | criteria provided, single submitter | clinical testing | The c.1498delG variant, located in coding exon 10 of the FLCN gene, results from a deletion of one nucleotide at nucleotide position 1498, causing a translational frameshift with a predicted alternate stop codon (p.V500Wfs*13). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a likely pathogenic. |