ClinVar Miner

Submissions for variant NM_005205.4(COX6A2):c.127T>C (p.Cys43Arg)

gnomAD frequency: 0.00002  dbSNP: rs1275864234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000790850 SCV001468550 likely pathogenic Mitochondrial complex 4 deficiency, nuclear type 18 2020-12-04 criteria provided, single submitter curation This variant is interpreted as Likely pathogenic for Mitochondrial complex IV deficiency, nuclear type 18, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); For recessive disorders, detected in trans with a pathogenic variant (PM3); Well-established functional studies show a deleterious effect (PS3 downgraded to moderate).
OMIM RCV000790850 SCV000930035 pathogenic Mitochondrial complex 4 deficiency, nuclear type 18 2020-10-23 no assertion criteria provided literature only

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