ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1142+6A>T

gnomAD frequency: 0.00001  dbSNP: rs778930581
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557793 SCV000654194 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2022-10-05 criteria provided, single submitter clinical testing This variant is present in population databases (rs778930581, gnomAD 0.008%). 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: 474301). This variant has not been reported in the literature in individuals affected with TBC1D24-related conditions. This sequence change falls in intron 4 of the TBC1D24 gene. It does not directly change the encoded amino acid sequence of the TBC1D24 protein. It affects a nucleotide within the consensus splice site.

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