ClinVar Miner

Submissions for variant NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu) (rs35263902)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200129 SCV000251802 likely pathogenic not provided 2014-05-02 criteria provided, single submitter clinical testing p.Arg75Leu (CGC>CTC): c.224 G>T in exon 3 of the NDUFA9 gene (NM_005002.4). The R75L variant that is likely pathogenic was identified in the NDUFA9 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R75L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s).
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203115 SCV000258011 uncertain significance not specified 2015-03-06 criteria provided, single submitter clinical testing
Mendelics RCV000988772 SCV001138629 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 26 2019-05-28 criteria provided, single submitter clinical testing

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