ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.925C>T (p.Arg309Cys)

gnomAD frequency: 0.00006  dbSNP: rs764958201
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000734199 SCV000252411 uncertain significance not provided 2014-05-19 criteria provided, single submitter clinical testing p.Arg309Cys (CGC>TGC): c.925 C>T in exon 9 of the TRMU gene (NM_018006.4). The R309C varian of unknown significance identified in the TRMU gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R309C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is 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).
Eurofins Ntd Llc (ga) RCV000734199 SCV000862323 uncertain significance not provided 2018-07-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833154 SCV002076160 uncertain significance Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2020-02-18 no assertion criteria provided clinical testing

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