ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+2175_565+2176del

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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 RCV003821276 SCV004626356 uncertain significance Loeys-Dietz syndrome 2 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr586Cysfs*5) in the TMPO gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 109 amino acid(s) of the TMPO protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TMPO-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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