ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) (rs33927012)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 17
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132153 SCV000187226 benign Hereditary cancer-predisposing syndrome 2014-12-23 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
GeneDx RCV000122002 SCV000235633 likely benign not specified 2017-10-04 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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202946 SCV000257933 benign Paragangliomas 4 2015-02-13 criteria provided, single submitter clinical testing
Invitae RCV000206861 SCV000262194 benign Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2017-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000122002 SCV000309334 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282667 SCV000351418 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000202946 SCV000488422 benign Paragangliomas 4 2016-03-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000122002 SCV000596998 likely benign not specified 2016-08-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034688 SCV000605078 likely benign not provided 2017-08-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000122002 SCV000698135 benign not specified 2017-05-08 criteria provided, single submitter clinical testing Variant summary: The SDHB c.487T>C (p.Ser163Pro) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 1523/121404 control chromosomes (21 homozygotes) at a frequency of 0.0125449, which largely exceeds the estimated maximal expected allele frequency of a pathogenic SDHB variant (0.0000009), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000122002 SCV000702933 benign not specified 2016-11-16 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000202946 SCV000782276 uncertain significance Paragangliomas 4 2016-11-01 criteria provided, single submitter clinical testing
Mendelics RCV000013633 SCV000837734 uncertain significance Cowden syndrome 2018-07-02 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000202946 SCV000883134 uncertain significance Paragangliomas 4 2018-11-21 criteria provided, single submitter clinical testing
OMIM RCV000013633 SCV000033880 uncertain significance Cowden syndrome 2008-08-01 no assertion criteria provided literature only
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034688 SCV000043485 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000122002 SCV000086213 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.