ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1265C>T (p.Pro422Leu)

gnomAD frequency: 0.00005  dbSNP: rs565447853
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462559 SCV000549455 likely benign Birt-Hogg-Dube syndrome 2023-12-28 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000462559 SCV000928356 uncertain significance Birt-Hogg-Dube syndrome 2018-06-10 criteria provided, single submitter clinical testing PP3
Ambry Genetics RCV001010630 SCV001170856 likely benign Hereditary cancer-predisposing syndrome 2022-08-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001584159 SCV001810730 uncertain significance not provided 2023-11-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27149842, 17028174)

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