Submissions for variant NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)

gnomAD frequency: 0.00694  dbSNP: rs1801316

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000173348	SCV000170653	benign	not specified	2013-08-05	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.
Eurofins Ntd Llc (ga)	RCV000173348	SCV000224448	benign	not specified	2015-02-25	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000418299	SCV000511133	benign	not provided	2017-01-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313724	SCV000848494	benign	Inborn genetic diseases	2014-10-28	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000990934	SCV000884218	benign	Mitochondrial complex 1 deficiency, nuclear type 12	2022-10-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000418299	SCV001109908	benign	not provided	2024-01-16	criteria provided, single submitter	clinical testing
Mendelics	RCV000990934	SCV001142003	likely benign	Mitochondrial complex 1 deficiency, nuclear type 12	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000173348	SCV001476565	benign	not specified	2019-10-02	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000990934	SCV002803042	likely benign	Mitochondrial complex 1 deficiency, nuclear type 12	2021-07-26	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000418299	SCV005206734	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000030653	SCV000053331	uncertain significance	Mitochondrial complex I deficiency	2011-08-01	no assertion criteria provided	literature only
GenomeConnect, ClinGen	RCV000030653	SCV000607064	not provided	Mitochondrial complex I deficiency		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Mayo Clinic Laboratories, Mayo Clinic	RCV000418299	SCV000802917	uncertain significance	not provided	2016-02-24	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000418299	SCV001740040	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000173348	SCV001798846	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000418299	SCV001927274	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003924870	SCV004751558	benign	NDUFA1-related disorder	2019-10-18	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).