ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1597T>C

gnomAD frequency: 0.00002  dbSNP: rs1227785613
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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 RCV001322672 SCV001513553 uncertain significance Loeys-Dietz syndrome 2 2024-09-06 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 393 of the TMPO protein (p.Leu393Ser). This variant is not present in population databases (gnomAD no frequency). 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: 1022729). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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 RCV004035076 SCV002636534 uncertain significance not specified 2022-10-30 criteria provided, single submitter clinical testing The p.L393S variant (also known as c.1178T>C), located in coding exon 4 of the TMPO gene, results from a T to C substitution at nucleotide position 1178. The leucine at codon 393 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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