ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.968G>A (p.Arg323Gln) (rs373437260)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000728804 SCV000856420 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001147600 SCV001308434 uncertain significance Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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