ClinVar Miner

Submissions for variant NM_004376.6(COX15):c.452C>G (p.Ser151Ter) (rs149718203)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599531 SCV000709886 uncertain significance not provided 2018-10-04 criteria provided, single submitter clinical testing Full synopsis not available: Reported in a patient with a neonatal, rapidly progressive, fatal course including microcephaly, encephalopathy, persistent lactic acidosis and hypertrophic cardiomyopathy with decreased complex IV (COX) in cardiac muscle who harbored a missene variant on the opposite COX15 allele (in trans) (Alfadhel et al., 2011). Also identified in a patient with slowly progressive Leigh syndrome with no cardiac involvement and only mild COX deficiency in muscle; this patient also harbored a likely pathogenic variant in the COX15 gene but the phase of the two variants was not reported (Bugiani et al. 2005).
Integrated Genetics/Laboratory Corporation of America RCV000586150 SCV000698414 likely pathogenic Leigh syndrome 2016-01-26 criteria provided, single submitter clinical testing
OMIM RCV000033254 SCV000057117 pathogenic Leigh syndrome due to mitochondrial complex IV deficiency 2011-04-01 no assertion criteria provided literature only

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