ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.246C>T (p.Cys82=) (rs150712346)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163467 SCV000214019 likely benign Hereditary cancer-predisposing syndrome 2015-02-06 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 RCV001085160 SCV000291440 likely benign Multiple fibrofolliculomas 2020-12-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756169 SCV000883895 likely benign not provided 2017-09-16 criteria provided, single submitter clinical testing The c.246C>T; p.Cys82Cys variant (rs150712346) does not alter the amino acid sequence of the FLCN protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site (Alamut v2.9.0). This variant has not been reported in association with any hereditary cancer syndromes in the medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.02 percent (identified on 56 out of 276,584 chromosomes). Based on these observations, the p.Cys82Cys variant is likely to be benign.
GeneDx RCV000756169 SCV000971148 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000756169 SCV001151235 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000756169 SCV001957299 likely benign not provided no assertion criteria provided clinical testing

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