ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1983del

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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 RCV002800048 SCV003026736 uncertain significance Loeys-Dietz syndrome 2 2022-07-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val522Phefs*15) in the TMPO gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 173 amino acid(s) of the TMPO protein. 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 affected with TMPO-related conditions. This variant is not present in population databases (gnomAD no frequency).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317621 SCV004020923 uncertain significance not specified 2023-06-19 criteria provided, single submitter clinical testing Variant summary: TMPO c.1564delG (p.Val522PhefsX15) results in a premature termination codon, predicted to cause a truncation of the last 156 amino acids in the last exon of the encoded protein. This truncation is not expected to cause nonsense mediated decay. The variant was absent in 251360 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1564delG in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and classified has the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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