ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.311C>T (p.Pro104Leu) (rs202207627)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764102 SCV000895070 uncertain significance Leigh syndrome; Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000521510 SCV000616688 uncertain significance not provided 2017-08-21 criteria provided, single submitter clinical testing The P104L variant in the COX10 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P104L variant is observed in 9/8650 (0.104%) alleles from individuals of East Asian background in the ExAC dataset and no individuals were reported to be homozygous (Lek et al., 2016). The P104L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P104L as a variant of uncertain significance.

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