ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1368G>A (p.Ser456=)

gnomAD frequency: 0.00117  dbSNP: rs149875171
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080809 SCV000266797 benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2025-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000247565 SCV000309988 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000210523 SCV000525370 likely benign not provided 2021-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570838 SCV000664724 likely benign Hereditary cancer-predisposing syndrome 2014-09-10 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.
CeGaT Center for Human Genetics Tuebingen RCV000210523 SCV001154356 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing SDHA: BP4, BP7
Illumina Laboratory Services, Illumina RCV001157831 SCV001319436 uncertain significance Leigh syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001157832 SCV001319437 uncertain significance Mitochondrial complex II deficiency, nuclear type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001157833 SCV001319438 benign Hereditary pheochromocytoma-paraganglioma 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory, University of Chicago RCV000247565 SCV002069748 likely benign not specified 2020-12-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000570838 SCV002527706 benign Hereditary cancer-predisposing syndrome 2020-11-04 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000247565 SCV002773961 benign not specified 2021-07-20 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316163 SCV004015397 likely benign Paragangliomas 5 2023-07-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000210523 SCV001744627 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000210523 SCV001958565 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000210523 SCV001974442 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000210523 SCV002037000 likely benign not provided no assertion criteria provided clinical testing

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