ClinVar Miner

Submissions for variant NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu) (rs199842745)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197389 SCV000251772 uncertain significance not provided 2018-06-18 criteria provided, single submitter clinical testing The R104L variant has not been published as a pathogenic or benign variant to our knowledge. The R104L 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 conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000765475 SCV000414845 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Fulgent Genetics,Fulgent Genetics RCV000765475 SCV000896766 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000197389 SCV001110142 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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