ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+2299A>G

dbSNP: rs766232053
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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 RCV001960339 SCV002220558 uncertain significance Loeys-Dietz syndrome 2 2022-03-18 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with TMPO-related conditions. This variant is present in population databases (rs766232053, gnomAD 0.0009%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 627 of the TMPO protein (p.Tyr627Cys).
Ambry Genetics RCV004043198 SCV002721161 uncertain significance not specified 2024-08-19 criteria provided, single submitter clinical testing The p.Y627C variant (also known as c.1880A>G), located in coding exon 4 of the TMPO gene, results from an A to G substitution at nucleotide position 1880. The tyrosine at codon 627 is replaced by cysteine, an amino acid with highly dissimilar 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.

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