ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.902_929dup (p.Thr310_Leu311insGlyGlyHisTer)

dbSNP: rs2066879614
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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 RCV001035441 SCV001198768 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2019-05-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu311Glyfs*4) in the TCTN1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TCTN1 are known to be pathogenic (PMID: 21725307). This variant has not been reported in the literature in individuals with TCTN1-related conditions. This variant is not present in population databases (ExAC no frequency).

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