ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1525_1527GAG[1] (p.Glu510del) (rs879255681)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000239692 SCV000298089 likely pathogenic Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
GeneDx 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,

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