ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter) (rs786204788)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000169679 SCV000221217 pathogenic Joubert syndrome 2014-01-20 criteria provided, single submitter clinical testing The Leu626X variant in TCTN2 has not been previously identified in individuals with Joubert syndrome or in large population studies. However, this nonsense variant leads to a premature termination codon at position 626, which is predicted to lead to a truncated or absent protein. Loss-of-function variants in the TCTN2 gene, including another nonsense variant in this exon, have been previously reported in individuals with autosomal recessive ciliopathies including Joubert syndrome (Sang 2011) and Meckel-Gruber syndrome (Shaheen 2011). In summary, this variant meets our criteria to be classified as pathogenic.

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