ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.204C>T (p.Ser68=)

gnomAD frequency: 0.11428  dbSNP: rs9919552
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000037727 SCV000061389 benign not specified 2012-12-21 criteria provided, single submitter clinical testing This variant is classified as benign because it does not change the amino acid a nd is frequent in the general population (rs9919552, MAF >1%). Noted as 2.8-4.4% in TCA gene mutation database.
Ambry Genetics RCV000162450 SCV000212803 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics,PreventionGenetics RCV000037727 SCV000309338 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000265027 SCV000367347 benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002228123 SCV000563767 benign Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2021-12-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000587940 SCV000605084 benign not provided 2021-12-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587940 SCV000698140 benign not provided 2016-05-25 criteria provided, single submitter clinical testing Variant summary: The SDHD c.204C>T (p.Ser68Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. This variant was found in 4824/121320 control chromosomes (622 homozygotes), predominantly observed in the African subpopulation (610 homozygotes) at a frequency of 0.3507319 (3642/10384). This frequency is greatly exceeds the estimated maximal expected allele frequency of a pathogenic SDHD variant (0.0000016), suggesting this is a common benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories have classified this variant as Benign/Likely Benign. Taken together, this variant is classified as Benign.
GeneDx RCV000587940 SCV001944511 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807015 SCV002054703 benign Mitochondrial complex 2 deficiency, nuclear type 3 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807014 SCV002054704 benign Paragangliomas 1 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000265027 SCV002054705 benign Pheochromocytoma 2021-07-15 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000162450 SCV002527120 benign Hereditary cancer-predisposing syndrome 2019-12-09 criteria provided, single submitter curation
Genetic Services Laboratory,University of Chicago RCV000037727 SCV000194885 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000037727 SCV001740246 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037727 SCV001930266 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037727 SCV001959655 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000037727 SCV002036847 benign not specified no assertion criteria provided clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000037727 SCV002549994 likely benign not specified 2021-12-29 no assertion criteria provided clinical testing

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