ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.291C>A (p.Cys97Ter)

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Total submissions: 1
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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 RCV004771433 SCV005380723 pathogenic Joubert syndrome and related disorders 2024-08-09 criteria provided, single submitter clinical testing Variant summary: TCTN1 c.291C>A (p.Cys97X) 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 allele was found at a frequency of 4e-06 in 249586 control chromosomes. To our knowledge, no occurrence of c.291C>A 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.

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