ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.1498del (p.Gln500fs)

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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 RCV002610374 SCV003492619 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-06-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln500Serfs*13) in the TCTN2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCTN2 are known to be pathogenic (PMID: 21565611). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2177127). This variant has not been reported in the literature in individuals affected with TCTN2-related conditions. This variant is present in population databases (rs757123597, gnomAD 0.007%).

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