Submissions for variant NM_004168.4(SDHA):c.918C>G (p.Leu306=)

gnomAD frequency: 0.00017  dbSNP: rs138828792

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000239363	SCV000297692	likely benign	Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000568221	SCV000674927	likely benign	Hereditary cancer-predisposing syndrome	2016-03-25	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	RCV000568221	SCV002527774	benign	Hereditary cancer-predisposing syndrome	2021-12-23	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV002479953	SCV002773966	benign	not specified	2021-07-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967682	SCV004777552	likely benign	SDHA-related condition	2023-01-05	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).