ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys)

gnomAD frequency: 0.00020  dbSNP: rs186961144
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001146695 SCV001307447 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Fulgent Genetics, Fulgent Genetics RCV002480540 SCV002792394 uncertain significance Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2022-01-14 criteria provided, single submitter clinical testing
Invitae RCV002557141 SCV003274359 uncertain significance not provided 2022-03-16 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 301 of the TRMU protein (p.Tyr301Cys). This variant is present in population databases (rs186961144, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with TRMU-related conditions. ClinVar contains an entry for this variant (Variation ID: 901050). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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