ClinVar Miner

Submissions for variant NM_015631.6(TCTN3):c.622dup (p.Tyr208fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004771434 SCV005380724 pathogenic Joubert syndrome and related disorders 2024-08-09 criteria provided, single submitter clinical testing Variant summary: TCTN3 c.622dupT (p.Tyr208LeufsX34) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 250126 control chromosomes. To our knowledge, no occurrence of c.622dupT in individuals affected with Joubert Syndrome And Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005040786 SCV005678471 likely pathogenic Orofacial-digital syndrome IV; Joubert syndrome 18 2024-03-20 criteria provided, single submitter clinical testing

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