Submissions for variant NM_006567.5(FARS2):c.506A>T (p.Asp169Val)

gnomAD frequency: 0.00141  dbSNP: rs146356199

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000200335	SCV000251378	likely benign	not provided	2021-05-20	criteria provided, single submitter	clinical testing	Reported as a variant of uncertain significance in siblings with juvenile idiopathic arthritis; these siblings were also homozygous for a variant in another gene that the authors classified as pathogenic (Rabinot et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30872671)
Invitae	RCV000557427	SCV000652846	likely benign	Combined oxidative phosphorylation defect type 14	2024-01-30	criteria provided, single submitter	clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000557427	SCV000845681	uncertain significance	Combined oxidative phosphorylation defect type 14	2018-06-13	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000557427	SCV003836481	uncertain significance	Combined oxidative phosphorylation defect type 14	2022-09-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937732	SCV004754027	likely benign	FARS2-related condition	2022-04-29	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).