Submissions for variant NM_005138.3(SCO2):c.776C>T (p.Ala259Val)

gnomAD frequency: 0.00949  dbSNP: rs8139305

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000431453	SCV000171608	benign	not provided	2019-01-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23643385)
Illumina Laboratory Services, Illumina	RCV000383650	SCV000439258	likely benign	Fatal Infantile Cardioencephalomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000284953	SCV000439259	likely benign	Mitochondrial complex IV deficiency, nuclear type 1	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000369274	SCV000483992	likely benign	Mitochondrial DNA depletion syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000431453	SCV000511183	likely benign	not provided	2016-12-09	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000431453	SCV001012202	benign	not provided	2025-01-30	criteria provided, single submitter	clinical testing
Mendelics	RCV000284953	SCV001141457	benign	Mitochondrial complex IV deficiency, nuclear type 1	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001145436	SCV001306114	likely benign	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000431453	SCV004153425	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	SCO2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000431453	SCV005207821	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000431453	SCV000802043	likely benign	not provided	2016-03-16	no assertion criteria provided	clinical testing