ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1606del (p.Gln536fs)

dbSNP: rs1567414972
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713764 SCV000844393 uncertain significance not provided 2018-07-18 criteria provided, single submitter clinical testing
Invitae RCV001861997 SCV002166120 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2021-11-13 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 586775). This variant has not been reported in the literature in individuals affected with TBC1D24-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the TBC1D24 gene (p.Gln536Serfs*32). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 24 amino acid(s) of the TBC1D24 protein and extend the protein by 7 additional amino acid residues.

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