Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002029027 | SCV002296594 | uncertain significance | Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 | 2021-08-19 | criteria provided, single submitter | clinical testing | This sequence change affects codon 328 of the TBC1D24 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TBC1D24 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs774492330, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with TBC1D24-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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. |