Submissions for variant NM_004168.4(SDHA):c.1737C>T (p.Ile579=)

gnomAD frequency: 0.00002  dbSNP: rs201454617

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001082233	SCV000563689	likely benign	Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000475760	SCV000724500	likely benign	not provided	2019-04-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000475760	SCV001154361	likely benign	not provided	2016-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001012952	SCV001173476	likely benign	Hereditary cancer-predisposing syndrome	2015-01-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Sema4, Sema4	RCV001012952	SCV002527729	likely benign	Hereditary cancer-predisposing syndrome	2021-10-08	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316633	SCV004015404	likely benign	Paragangliomas 5	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003942581	SCV004772552	likely benign	SDHA-related condition	2019-11-19	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).