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
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.
Ambry Genetics RCV000162450 SCV000212803 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037727 SCV000309338 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265027 SCV000367347 benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000460162 SCV000563767 benign Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000037727 SCV000605084 benign not specified 2018-10-02 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.
Genetic Services Laboratory,University of Chicago RCV000037727 SCV000194885 likely benign not specified no assertion criteria provided clinical testing

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