ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.964dup (p.Thr322fs)

dbSNP: rs746186338
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000406246 SCV000343593 likely pathogenic not provided 2016-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765663 SCV004587436 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-12-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TCTN2-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 289262). This variant is present in population databases (rs746186338, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Thr322Asnfs*2) 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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