ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.204C>T (p.Ser68=) (rs9919552)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000587940 SCV000605084 benign not provided 2018-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162450 SCV000212803 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000037727 SCV000194885 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265027 SCV000367347 benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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.
Invitae RCV000460162 SCV000563767 benign Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2017-08-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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.
PreventionGenetics RCV000037727 SCV000309338 benign not specified criteria provided, single submitter clinical testing

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