ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.538G>T (p.Val180Phe)

gnomAD frequency: 0.00001  dbSNP: rs863224239
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198478 SCV000252409 likely pathogenic not provided 2014-01-29 criteria provided, single submitter clinical testing p.Val180Phe (GTT>TTT): c.538 G>T in exon 5 of the TRMU gene (NM_018006.4). The V180F missense change that is likely pathogenic 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 V180F variant is a semi-conservative amino acid substitution as these residues share similar properties, but differ in size, charge, or other properties which may impact secondary structure. This substitution occurs at a position in the TRMU protein where amino acids with similar properties as Valine are conserved. Multiple in-silico analysis programs predict that V180F is damaging to the TRMU protein. Therefore, V180F is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s).

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