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 2016-12-21 criteria provided, single submitter clinical testing The Q41X nonsense variant in the TBC1D24 gene has been reported previously in two unrelated Navajo individuals with refractory epilepsy, developmental delays, and head growth deceleration who also had a second TBC1D24 variant identified on the opposite allele (Appavu et al., 2016). The Q41X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae 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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