ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+2102C>A

dbSNP: rs764177808
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645707 SCV000767459 uncertain significance Loeys-Dietz syndrome 2 2017-10-11 criteria provided, single submitter clinical testing The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TMPO cause disease. 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. This variant has not been reported in the literature in individuals with TMPO-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the TMPO gene (p.Cys561*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 134 amino acids of the TMPO protein.

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