ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) (rs78683075)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000148504 SCV000190215 uncertain significance Multiple fibrofolliculomas 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 Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Other data supporting benign classification;Subpopulation frequency in support of benign classification
Invitae RCV000148504 SCV000291452 likely benign Multiple fibrofolliculomas 2020-12-03 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000148504 SCV000298054 uncertain significance Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000148504 SCV000401012 likely benign Multiple fibrofolliculomas 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 uncertain significance Multiple fibrofolliculomas 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000121104 SCV000085272 not provided not specified 2013-09-19 no assertion provided reference population

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