ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His) (rs774857058)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198211 SCV000251681 likely pathogenic not provided 2014-03-03 criteria provided, single submitter clinical testing p.Arg989His (CGT>CAT): c.2966 G>A in exon 28 of the LRPPRC gene (NM_133259.3). The R989H variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R989H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar 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, 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).
Illumina Clinical Services Laboratory,Illumina RCV000675141 SCV000430604 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 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.
Counsyl RCV000675141 SCV000800731 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2017-08-15 criteria provided, single submitter clinical testing

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