ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1674G>A (p.Lys558=)

gnomAD frequency: 0.00003  dbSNP: rs142112610
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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 RCV002775624 SCV003020952 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2023-08-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1984694). This variant is present in population databases (rs142112610, gnomAD 0.003%). This sequence change affects codon 558 of the TTC21B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TTC21B protein. This variant also falls at the last nucleotide of exon 13, which is part of the consensus splice site for this exon.

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