ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)

gnomAD frequency: 0.00024  dbSNP: rs78683075
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000148504 SCV000190215 uncertain significance Birt-Hogg-Dube syndrome 2015-12-01 criteria provided, single submitter research
Ambry Genetics RCV000163388 SCV000213928 likely benign Hereditary cancer-predisposing syndrome 2019-05-03 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.
Invitae RCV000148504 SCV000291452 likely benign Birt-Hogg-Dube syndrome 2024-01-30 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000148504 SCV000298054 uncertain significance Birt-Hogg-Dube syndrome 2016-07-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000148504 SCV000401012 likely benign Birt-Hogg-Dube syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000656850 SCV000616724 likely benign not provided 2021-05-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with FLCN-related tumors and other cancers (Woodward 2008, Whitworth 2016, Melloni 2017); Also known as c.1213C>T; This variant is associated with the following publications: (PMID: 23784378, 26608100, 25637381, 28873162, 20981092, 21538689, 24055113, 19802896, 19562744, 23155228, 26334087, 23217326, 23820649, 26659639, 23414156, 24728327, 28569218, 18794106, 28785590, 29357828, 28970150, 33137092, 33858678)
Mendelics RCV000148504 SCV001140313 benign Birt-Hogg-Dube syndrome 2023-08-22 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000656850 SCV002009831 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163388 SCV002530153 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-13 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000121104 SCV002551355 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000656850 SCV002774598 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000656850 SCV004142321 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing FLCN: PP3
PreventionGenetics, part of Exact Sciences RCV003945073 SCV004758640 likely benign FLCN-related condition 2024-01-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000121104 SCV000085272 not provided not specified 2013-09-19 no assertion provided reference population

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.