ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1104A>C

gnomAD frequency: 0.00001  dbSNP: rs764732034
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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 RCV001225675 SCV001397960 uncertain significance Loeys-Dietz syndrome 2 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 229 of the TMPO protein (p.Thr229Pro). This variant is present in population databases (rs764732034, gnomAD 0.003%). 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: 953389). 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 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.
Ambry Genetics RCV004032547 SCV002665543 uncertain significance not specified 2024-08-03 criteria provided, single submitter clinical testing The p.T229P variant (also known as c.685A>C), located in coding exon 4 of the TMPO gene, results from an A to C substitution at nucleotide position 685. The threonine at codon 229 is replaced by proline, an amino acid with highly similar 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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