ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1303-5C>G

dbSNP: rs1468286638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599047 SCV000710569 uncertain significance not provided 2018-02-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TBC1D24 gene. The c.1303-5 C>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1303-5 C>G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Several in silico splice prediction models predict that c.1303-5 C>G damages the natural splice acceptor site which may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062112 SCV002443676 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2021-11-04 criteria provided, single submitter clinical testing

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