ClinVar Miner

Submissions for variant NM_005035.4(POLRMT):c.3073G>A (p.Val1025Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV004555977 SCV005045087 uncertain significance Combined oxidative phosphorylation deficiency 55 2024-04-05 criteria provided, single submitter clinical testing The POLRMT c.3073G>A (p.Val1025Met) variant, to our knowledge, has not been reported in the medical literature. Computational predictors suggest that the variant does not impact POLRMT function. This variant is only observed on 3/280,508 alleles in the general population (gnomAD v.2.1.1), indicating it is not a common variant. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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