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

gnomAD frequency: 0.00117  dbSNP: rs149875171

Total submissions: 16

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