ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)

gnomAD frequency: 0.00245  dbSNP: rs151266052
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232220 SCV000288114 benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563852 SCV000664505 likely benign Hereditary cancer-predisposing syndrome 2018-07-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV001719715 SCV000714403 likely benign not provided 2020-10-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22972948, 26642834, 23174333, 28724664, 29778030)
Mendelics RCV000032785 SCV001136799 likely benign Mitochondrial complex II deficiency, nuclear type 1 2019-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818204 SCV002069750 uncertain significance not specified 2018-08-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563852 SCV002527718 benign Hereditary cancer-predisposing syndrome 2021-01-12 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001818204 SCV002773969 benign not specified 2021-07-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001719715 SCV002821281 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SDHA: PP3, BS1
Mayo Clinic Laboratories, Mayo Clinic RCV001719715 SCV004227052 uncertain significance not provided 2023-03-23 criteria provided, single submitter clinical testing
OMIM RCV000032785 SCV000056549 pathogenic Mitochondrial complex II deficiency, nuclear type 1 2012-09-01 no assertion criteria provided literature only

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