ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.149A>G (p.His50Arg) (rs11214077)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129149 SCV000183872 benign Hereditary cancer-predisposing syndrome 2014-06-29 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
Invitae RCV000034696 SCV000261942 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238643 SCV000297095 benign Paragangliomas 1 2015-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000023207 SCV000367346 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000122007 SCV000514602 likely benign not specified 2018-03-13 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000034696 SCV000574910 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000122007 SCV000597000 likely benign not specified 2016-12-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000122007 SCV000602182 likely benign not specified 2017-05-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034696 SCV000605087 benign not provided 2017-06-07 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034696 SCV000609650 likely benign not provided 2017-10-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000034696 SCV000698139 likely benign not provided 2016-08-31 criteria provided, single submitter clinical testing Variant summary: The SDHD c.149A>G (p.His50Arg) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). In vitro studies provided conflicting results in affecting cell growth, PTEN function, P-Akt and P-MAPK levels. This variant has been reported in numerous patients with various cancer phenotypes or atherosclerosis phenotypes without co-segregation evidence. This variant was found in 827/123658 control chromosomes (6 homozygotes) at a frequency of 0.0066878, which is approximately 4280 times the estimated maximal expected allele frequency of a pathogenic SDHD variant (0.0000016), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. In summary, this variant is unlikely to be pathogenic in Mendelian inheritance, however, the possibility of it being a disease modifier can not be ruled out. Therefore, this variant is classified as likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000122007 SCV000703621 benign not specified 2016-11-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034696 SCV000888623 benign not provided 2018-06-05 criteria provided, single submitter clinical testing
Mendelics RCV000988743 SCV001138593 likely benign Paraganglioma and gastric stromal sarcoma 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000007318 SCV000027515 uncertain significance Carcinoid tumor of intestine 2008-08-01 no assertion criteria provided literature only
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034696 SCV000043498 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000122007 SCV000086218 not provided not specified 2013-09-19 no assertion provided reference population

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