ClinVar Miner

Submissions for variant NM_032620.4(GTPBP3):c.215C>T (p.Pro72Leu)

gnomAD frequency: 0.00002  dbSNP: rs542667981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000855413 SCV000998476 uncertain significance Combined oxidative phosphorylation defect type 23 2019-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858522 SCV002207328 uncertain significance not provided 2021-08-02 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 72 of the GTPBP3 protein (p.Pro72Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs542667981, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with GTPBP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 693995). 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. 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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