Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000239692 | SCV000298089 | likely pathogenic | Multiple fibrofolliculomas | 2016-07-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000489596 | SCV000577522 | pathogenic | not provided | 2018-04-25 | criteria provided, single submitter | clinical testing | The c.1528_1530delGAG variant in the FLCN gene is an in-frame deletion that is predicted to eliminate the Glutamic Acid residue at amino acid position 510. This variant has been previously reported in association with Birt-Hogg-Dube syndrome (for examples, see Toro et al., 2008; Benusiglio et al., 2014; Furuya et al., 2017). Functional studies show this variant reduced protein expression and significantly disrupted protein stability (Nahorski et al., 2011). The residue deleted occurs at a position that is conserved across species, but is not located within a known functional domain. Based on currently available evidence, we consider c.1528_1530delGAG to be pathogenic, |