ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.382G>A (p.Gly128Arg)

gnomAD frequency: 0.00001  dbSNP: rs200943582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172124 SCV000051065 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002516568 SCV003470781 uncertain significance Loeys-Dietz syndrome 2 2022-09-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs200943582, gnomAD 0.003%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 191788). This variant has not been reported in the literature in individuals affected with TMPO-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 128 of the TMPO protein (p.Gly128Arg).

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