ClinVar Miner

Submissions for variant NM_005035.4(POLRMT):c.1331C>T (p.Ala444Val)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004309813 SCV003972448 uncertain significance not specified 2023-04-12 criteria provided, single submitter clinical testing The c.1331C>T (p.A444V) alteration is located in exon 7 (coding exon 7) of the POLRMT gene. This alteration results from a C to T substitution at nucleotide position 1331, causing the alanine (A) at amino acid position 444 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genomics Laboratory, Washington University in St. Louis RCV004555909 SCV005045088 uncertain significance Combined oxidative phosphorylation deficiency 55 2024-04-05 criteria provided, single submitter clinical testing The POLRMT c.1331C>T (p.Ala444Val) variant, to our knowledge, has not been reported in the medical literature. Computational predictors suggest that the variant does not impact POLRMT function. The highest population minor allele frequency in the population database genome aggregation database (v.2.1.1) is 0.036% in the European non-Finnish population. This variant has been reported in the ClinVar database as a germline variant of uncertain significance by one submitter. 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.