ClinVar Miner

Submissions for variant NM_032620.4(GTPBP3):c.1409G>A (p.Arg470Gln)

gnomAD frequency: 0.00001  dbSNP: rs1228454692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333497 SCV001526090 uncertain significance Combined oxidative phosphorylation defect type 23 2018-07-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002546636 SCV003298564 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GTPBP3-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 502 of the GTPBP3 protein (p.Arg502Gln). This variant is present in population databases (no rsID available, gnomAD 0.003%). ClinVar contains an entry for this variant (Variation ID: 1031608). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GTPBP3 protein function. 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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