ClinVar Miner

Submissions for variant NM_032620.4(GTPBP3):c.392G>C (p.Ser131Thr)

gnomAD frequency: 0.00001  dbSNP: rs767434617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198274 SCV001369154 uncertain significance Combined oxidative phosphorylation defect type 23 2019-08-12 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001859202 SCV002299290 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 131 of the GTPBP3 protein (p.Ser131Thr). This variant is present in population databases (rs767434617, gnomAD 0.002%). 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: 931581). 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 with a negative predictive value of 80%. 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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