ClinVar Miner

Submissions for variant NM_004376.6(COX15):c.929C>G (p.Pro310Arg) (rs138293000)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195853 SCV000251301 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing The P310R missense substitution in the COX15 gene has not been published as a mutation. The NHLBI ESP Exome Variant Server reports P310R was observed in 3/7017 alleles in individuals of European background. The P310R amino acid substitution is non-conservative in that an uncharged Proline residue with a unique ring structure is replaced by a positively charged Arginine reside at a highly conserved position in the COX15 protein, and in-silico analysis predicts that P310R is probably damaging to the COX15 protein. The presence of P310R cannot be interpreted for diagnosis or used for genetic counseling without further studies. The variant is found in MITO24 panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000321049 SCV000359740 uncertain significance Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 2016-06-14 criteria provided, single submitter clinical testing

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