ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.152C>T (p.Pro51Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004058951 SCV002708251 uncertain significance not specified 2023-07-05 criteria provided, single submitter clinical testing The p.P51L variant (also known as c.152C>T), located in coding exon 1 of the TMPO gene, results from a C to T substitution at nucleotide position 152. The proline at codon 51 is replaced by leucine, an amino acid with 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003626761 SCV004511629 uncertain significance Loeys-Dietz syndrome 2 2023-03-26 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1774591). This variant has not been reported in the literature in individuals affected with TMPO-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 51 of the TMPO protein (p.Pro51Leu).

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