ClinVar Miner

Submissions for variant NM_015631.6(TCTN3):c.1059C>T (p.Gly353=)

gnomAD frequency: 0.00002  dbSNP: rs750698768
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001373045 SCV001569744 uncertain significance Orofacial-digital syndrome IV; Joubert syndrome 18 2022-10-05 criteria provided, single submitter clinical testing This sequence change affects codon 353 of the TCTN3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TCTN3 protein. This variant is present in population databases (rs750698768, gnomAD 0.04%). 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: 1063225). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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