ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe)

gnomAD frequency: 0.00002  dbSNP: rs375619307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, University of Leuven RCV000498737 SCV000579546 uncertain significance Primary dilated cardiomyopathy 2017-02-09 criteria provided, single submitter clinical testing ACMG score unknown significance
Labcorp Genetics (formerly Invitae), Labcorp RCV000795758 SCV000935231 uncertain significance Loeys-Dietz syndrome 2 2023-04-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs375619307, gnomAD 0.006%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 124 of the TMPO protein (p.Leu124Phe). This variant has not been reported in the literature in individuals affected with TMPO-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 427956).

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