ClinVar Miner

Submissions for variant NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter)

gnomAD frequency: 0.00001  dbSNP: rs764091969
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000190630 SCV000245669 pathogenic Orofacial-digital syndrome IV 2014-08-22 criteria provided, single submitter clinical testing The Gln293X variant in TCTN3 has not been previously reported in individuals with disease or in large population studies. This nonsense variant leads to a premature termination codon at position 293, which is predicted to lead to a truncated or absent protein. Nonsense and other loss-of-function variants in TCTN3 have been associated with autosomal recessive orofaciodigital syndrome type IV (Thomas 2012). In summary, the Gln293X variant meets our criteria to be classified as pathogenic for orofaciodigital syndrome 4 in an recessive manner (http://personalizedmedicine.partners.org/Laboratory-For-Molecular-Medicine).
Labcorp Genetics (formerly Invitae), Labcorp RCV002517029 SCV003504167 pathogenic Orofacial-digital syndrome IV; Joubert syndrome 18 2024-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln293*) in the TCTN3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCTN3 are known to be pathogenic (PMID: 2692869, 22883145, 25118024). This variant is present in population databases (rs764091969, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with TCTN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 208618). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002517029 SCV005678467 likely pathogenic Orofacial-digital syndrome IV; Joubert syndrome 18 2024-06-15 criteria provided, single submitter clinical testing

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