ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.1329del (p.Lys443fs)

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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 RCV002875674 SCV003228603 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-08-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2022718). This variant has not been reported in the literature in individuals affected with TCTN2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys443Asnfs*6) 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).

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