Submissions for variant NM_004168.4(SDHA):c.-7A>C

dbSNP: rs751633537

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000411889	SCV000489199	uncertain significance	Paragangliomas 5	2016-08-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000425129	SCV000525366	likely benign	not specified	2017-03-01	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000649475	SCV000771303	likely benign	Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5	2023-10-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756629	SCV000884499	likely benign	not provided	2017-09-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001151931	SCV001313116	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	RCV001151932	SCV001313117	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.
Illumina Laboratory Services, Illumina	RCV001151933	SCV001313118	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.
CeGaT Center for Human Genetics Tuebingen	RCV000756629	SCV001748112	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SDHA: BS1
Genetic Services Laboratory, University of Chicago	RCV000425129	SCV002068416	uncertain significance	not specified	2021-10-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255377	SCV002527770	likely benign	Hereditary cancer-predisposing syndrome	2020-10-02	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000425129	SCV002550441	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000411889	SCV004018610	likely benign	Paragangliomas 5	2023-04-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000756629	SCV004220322	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002255377	SCV004849287	uncertain significance	Hereditary cancer-predisposing syndrome	2015-07-03	criteria provided, single submitter	clinical testing	The c.-7A>C alteration is located in the 5' untranslated region (5'UTR) of the SDHA gene. This alteration consists of a A to C substitution nucleotides upstream from the first translated codon. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000756629	SCV001741572	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000756629	SCV001952862	likely benign	not provided		no assertion criteria provided	clinical testing