Submissions for variant NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr)

gnomAD frequency: 0.00097  dbSNP: rs111387770

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000549321	SCV000651377	benign	Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574670	SCV000674963	benign	Hereditary cancer-predisposing syndrome	2015-04-27	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001572933	SCV002009961	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000574670	SCV002527710	likely benign	Hereditary cancer-predisposing syndrome	2021-07-26	criteria provided, single submitter	curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528282	SCV001739765	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572933	SCV001798059	likely benign	not provided		no assertion criteria provided	clinical testing