ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.475del (p.Leu159fs)

dbSNP: rs796053403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189694 SCV000243341 pathogenic not provided 2024-11-07 criteria provided, single submitter clinical testing Frameshift 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 a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28292732, 28428906, 24387994, 28663785, 27541164, 24291220, 25169651, 26207815, 27281533, 25769375, 24469796, 29655203, 33929620, 31922275)
Ambry Genetics RCV000624622 SCV000741956 pathogenic Inborn genetic diseases 2017-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001217724 SCV001389575 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2023-08-30 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: 207507). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive TBC1D24-related conditions (PMID: 31922275). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs765690011, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Leu159Trpfs*10) 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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