ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1069G>A

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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 RCV003514133 SCV004282056 uncertain significance Loeys-Dietz syndrome 2 2023-06-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 217 of the TMPO protein (p.Gly217Glu). 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. 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. This variant has not been reported in the literature in individuals affected with TMPO-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%).
Ambry Genetics RCV004877808 SCV005526575 uncertain significance not specified 2024-07-06 criteria provided, single submitter clinical testing The c.650G>A (p.G217E) alteration is located in exon 4 (coding exon 4) of the TMPO gene. This alteration results from a G to A substitution at nucleotide position 650, causing the glycine (G) at amino acid position 217 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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