ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.274G>A (p.Gly92Ser)

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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 RCV004064103 SCV002749332 uncertain significance not specified 2022-10-17 criteria provided, single submitter clinical testing The p.G92S variant (also known as c.274G>A), located in coding exon 1 of the TMPO gene, results from a G to A substitution at nucleotide position 274. The glycine at codon 92 is replaced by serine, an amino acid with similar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102175 SCV003521541 uncertain significance Loeys-Dietz syndrome 2 2022-09-16 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with TMPO-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 92 of the TMPO protein (p.Gly92Ser).

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