ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.841G>A (p.Val281Met) (rs776626629)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196036 SCV000252153 uncertain significance not provided 2015-07-29 criteria provided, single submitter clinical testing p.Val281Met (GTG>ATG): c.841 G>A in exon 5 of the PUS1 gene (NM_025215.5) A variant of unknown significance has been identified in the PUS1 gene. The V281M variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The V281M 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 where amino acids similar to Valine are conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Illumina Clinical Services Laboratory,Illumina RCV001113697 SCV001271488 uncertain significance Myopathy, lactic acidosis, and sideroblastic anemia 1 2018-01-12 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.

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