ClinVar Miner

Submissions for variant NC_012920.1(MT-CO1):m.6480G>A

dbSNP: rs199476128
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000853974 SCV000997007 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.6480G>A (YP_003024028.1:p.Val193Ile) variant in MTCO1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS4, BP4
Illumina Laboratory Services, Illumina RCV003985072 SCV004801484 uncertain significance Mitochondrial disease 2019-01-18 criteria provided, single submitter clinical testing The MT-COX1 m.6480G>A p.(Val193Ile) missense has been identified in individuals with a phenotype consistent with primary mitochondrial disease (Jaksch et al. 1998a; Jaksch et al. 1998b; Puomila et al. 2007; Cai et al. 2008). In several individuals, a second mitochondrial variant was also identified. The variant has also been reported in two of at least 851 controls, including in one individual who was homoplasmic (Jaksch et al. 1998a; Jaksch et al. 1998b; Cai et al. 2008; Dobrowolski et al. 2009; Ray et al. 2009). Based on the available evidence, the m.6480G>A variant is classified as a variant of uncertain significance for primary mitochondrial disease.
OMIM RCV000010304 SCV000030529 pathogenic Mitochondrial complex IV deficiency, nuclear type 1 1998-11-01 no assertion criteria provided literature only

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