ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.927C>T (p.Arg309=)

gnomAD frequency: 0.02832  dbSNP: rs9627420
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000332386 SCV000439128 benign Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000676762 SCV001105102 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000676762 SCV001473698 benign not provided 2023-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000676762 SCV001940272 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957765 SCV004778689 benign TRMU-related disorder 2020-01-20 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Mayo Clinic Laboratories, Mayo Clinic RCV000676762 SCV000802563 benign not provided 2017-09-15 no assertion criteria provided clinical testing
Natera, Inc. RCV000332386 SCV001458233 benign Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2020-09-16 no assertion criteria provided clinical testing

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