Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001057682 | SCV001222186 | pathogenic | Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 | 2020-02-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TBC1D24 are known to be pathogenic (PMID: 23526554, 24291220). This variant has been observed in individual(s) with TBC1D24-related conditions (PMID: 31112829). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln385*) in the TBC1D24 gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002348423 | SCV002623022 | pathogenic | Inborn genetic diseases | 2018-12-22 | criteria provided, single submitter | clinical testing | The p.Q385* pathogenic mutation (also known as c.1153C>T), located in coding exon 4 of the TBC1D24 gene, results from a C to T substitution at nucleotide position 1153. This changes the amino acid from a glutamine to a stop codon within coding exon 4. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |