ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.880C>T (p.Arg294Trp)

gnomAD frequency: 0.00005  dbSNP: rs773745635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003278857 SCV003958196 uncertain significance Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing The c.880C>T (p.R294W) alteration is located in exon 9 (coding exon 9) of the TRMU gene. This alteration results from a C to T substitution at nucleotide position 880, causing the arginine (R) at amino acid position 294 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect, ClinGen RCV000509329 SCV000607234 not provided Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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