ClinVar Miner

Submissions for variant NM_023936.2(MRPS34):c.404T>C (p.Met135Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002770855 SCV003028304 uncertain significance not provided 2022-02-12 criteria provided, single submitter clinical testing 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. 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 tolerated. This variant has not been reported in the literature in individuals affected with MRPS34-related conditions. This variant is present in population databases (rs549241918, gnomAD 0.05%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 142 of the MRPS34 protein (p.Met142Thr).
Revvity Omics, Revvity RCV003130758 SCV003808942 uncertain significance Combined oxidative phosphorylation deficiency 32 2021-08-20 criteria provided, single submitter clinical testing

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