ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3886del (p.His1296fs)

gnomAD frequency: 0.00001  dbSNP: rs1452582965
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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 RCV002037011 SCV002318244 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-04-25 criteria provided, single submitter clinical testing 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. This variant disrupts a region of the TTC21B protein in which other variant(s) (p.Asp1308Gly) have been observed in individuals with TTC21B-related conditions (PMID: 23559409). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.His1296Ilefs*19) in the TTC21B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 21 amino acid(s) of the TTC21B protein.

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