ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.726A>T (p.Thr242=) (rs113938514)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082641 SCV000114683 benign not specified 2013-04-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129668 SCV000184466 benign Hereditary cancer-predisposing syndrome 2014-06-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000082641 SCV000269116 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr242Thr in exon 7 of FLCN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 5.4% (239/4406) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs113938514).
PreventionGenetics,PreventionGenetics RCV000082641 SCV000316058 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384438 SCV000401010 benign Multiple fibrofolliculomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290141 SCV000401011 benign Spontaneous pneumothorax 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000384438 SCV000560336 benign Multiple fibrofolliculomas 2017-08-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586027 SCV000699934 benign not provided 2016-05-04 criteria provided, single submitter clinical testing Variant summary: The c.726A>T (p.Thr242Thr) variant in FLCN affects a non-conserved nucleotide, resulting in a synonymous change. 5/5 splice-tools in Alamut predict no significant effect on splicing, although these predictions have yet to be confirmed by functional studies. This variant is found in 2446/121198 control chromosomes (42 homozygotes) at a frequency of 0.02018, which greatly exceeds maximal expected frequency of a pathogenic allele (0.0000013), strong evidence that this variant is benign. In addition, multiple reputable clinical laboratories have classified this variant as benign. Taken together, this variant was classified as benign.

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