ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1449A>G

gnomAD frequency: 0.00002  dbSNP: rs754951098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696856 SCV000825436 uncertain significance Loeys-Dietz syndrome 2 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 344 of the TMPO protein (p.Arg344Gly). This variant is present in population databases (rs754951098, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TMPO-related conditions. ClinVar contains an entry for this variant (Variation ID: 574819). 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 TMPO 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.
GeneDx RCV001756211 SCV001988036 uncertain significance not provided 2019-06-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV004026388 SCV005020354 uncertain significance not specified 2023-10-10 criteria provided, single submitter clinical testing The p.R344G variant (also known as c.1030A>G), located in coding exon 4 of the TMPO gene, results from an A to G substitution at nucleotide position 1030. The arginine at codon 344 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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