ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3102-4C>G

dbSNP: rs750756355
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002050090 SCV002109653 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-03-09 criteria provided, single submitter clinical testing This sequence change falls in intron 23 of the TTC21B gene. It does not directly change the encoded amino acid sequence of the TTC21B protein. This variant is present in population databases (rs750756355, gnomAD 0.006%). This variant has been observed in individual(s) with nephronophthisis (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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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