Submissions for variant NM_004168.4(SDHA):c.1569T>C (p.Ala523=)

gnomAD frequency: 0.00019  dbSNP: rs150192376

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000445091	SCV000529318	likely benign	not specified	2017-11-25	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.
Invitae	RCV000458596	SCV000563721	benign	Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000566664	SCV000674930	likely benign	Hereditary cancer-predisposing syndrome	2014-12-22	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.
CeGaT Center for Human Genetics Tuebingen	RCV003883498	SCV002062572	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SDHA: BP4, BP7
Genetic Services Laboratory, University of Chicago	RCV000445091	SCV002069540	likely benign	not specified	2021-07-28	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000566664	SCV002527724	benign	Hereditary cancer-predisposing syndrome	2020-11-30	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000445091	SCV002773973	benign	not specified	2021-08-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003959952	SCV004769574	likely benign	SDHA-related condition	2019-07-10	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).