ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+2137A>G

gnomAD frequency: 0.00002  dbSNP: rs886049913
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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 RCV001960203 SCV002215530 uncertain significance Loeys-Dietz syndrome 2 2021-12-15 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 573 of the TMPO protein (p.Tyr573Cys). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TMPO-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV004042114 SCV003996023 uncertain significance not specified 2023-04-03 criteria provided, single submitter clinical testing The p.Y573C variant (also known as c.1718A>G), located in coding exon 4 of the TMPO gene, results from an A to G substitution at nucleotide position 1718. The tyrosine at codon 573 is replaced by cysteine, an amino acid with highly 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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