ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.1394-10_1394-5del

dbSNP: rs754718630
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763756 SCV002001162 uncertain significance not provided 2021-04-05 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001885040 SCV002145307 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the TCTN2 gene. It does not directly change the encoded amino acid sequence of the TCTN2 protein. This variant is present in population databases (rs754718630, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with TCTN2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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