ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.354T>C (p.Phe118=) (rs61733156)

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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 RCV000151829 SCV000200300 benign not specified 2013-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162606 SCV000213033 benign Hereditary cancer-predisposing syndrome 2015-11-20 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 RCV000589493 SCV000287801 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000151829 SCV000602178 benign not specified 2017-06-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589493 SCV000698138 benign not provided 2016-05-25 criteria provided, single submitter clinical testing Variant summary: The SDHC c.354T>C (p.Phe118Phe) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predicting no significant effect on splicing and the creation of two ESE binding sites, however, these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 162/121412 (1 homozygote, 1/749, frequency: 0.001334), predominantly observed in the African cohort, 159/10406 (1 homozygote, 1/65, frequency: 0.01528), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic SDHC variant of 1/5000000 (0.0000002). Therefore, suggesting this variant is a common polymorphism found in population(s) of African origin. In addition, reputable clinical laboratories cite the variant as "benign." Therefore, the variant of interest is classified as Benign.
GeneDx RCV000151829 SCV000724256 likely benign not specified 2017-11-30 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000589493 SCV000886092 benign not provided 2018-02-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589493 SCV000888620 benign not provided 2017-06-28 criteria provided, single submitter clinical testing

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