ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter)

dbSNP: rs1057524191
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436259 SCV000534816 pathogenic not provided 2024-07-10 criteria provided, single submitter clinical testing Observed multiple times with a pathogenic variant on the opposite allele (in trans) in unrelated patients with drug-resistant epilepsy and developmental delay (PMID: 27502353); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32549035, 27502353, 31440721)
Labcorp Genetics (formerly Invitae), Labcorp RCV000697787 SCV000826417 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2022-02-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 391687). This premature translational stop signal has been observed in individual(s) with autosomal recessive TBC1D24-related epilepsy (PMID: 27502353). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln41*) in the TBC1D24 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TBC1D24 are known to be pathogenic (PMID: 23526554, 24291220).

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