Submissions for variant NM_017841.4(SDHAF2):c.319C>T (p.Arg107Cys)

gnomAD frequency: 0.00067  dbSNP: rs140191819

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000467831	SCV000562732	likely benign	Hereditary pheochromocytoma-paraganglioma	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000561135	SCV000675035	likely benign	Hereditary cancer-predisposing syndrome	2019-03-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Eurofins Ntd Llc (ga)	RCV000732063	SCV000859951	likely benign	not specified	2018-03-12	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000561135	SCV002527228	benign	Hereditary cancer-predisposing syndrome	2021-09-11	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003942571	SCV004766352	likely benign	SDHAF2-related disorder	2023-09-14	no assertion criteria provided	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).