ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) (rs41419545)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000121112 SCV000603723 likely benign not specified 2016-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163302 SCV000213830 likely benign Hereditary cancer-predisposing syndrome 2017-10-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034789 SCV000043264 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000232087 SCV000298080 likely benign Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000232087 SCV000883142 uncertain significance Multiple fibrofolliculomas 2018-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000121112 SCV000278979 likely benign not specified 2017-11-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI RCV000121112 SCV000085280 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000232087 SCV000400988 likely benign Multiple fibrofolliculomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336471 SCV000400989 likely benign Spontaneous pneumothorax 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000232087 SCV000291431 benign Multiple fibrofolliculomas 2017-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000121112 SCV000270205 likely benign not specified 2015-08-06 criteria provided, single submitter clinical testing p.Ala445Thr in exon 12 of FLCN: This variant is not expected to have clinical si gnificance because it has been identified in 0.37% (246/66324) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs41419545). Additionally, 47 species including 27 mammals have a threon ine (Thr) at this position.
OMIM RCV000003537 SCV000023695 pathogenic Carcinoma of colon 2003-07-01 no assertion criteria provided literature only

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