ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.971C>A (p.Ser324Ter)

dbSNP: rs1567412736
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760737 SCV000890630 pathogenic not provided 2018-09-26 criteria provided, single submitter clinical testing The S324X nonsense variant in the TBC1D24 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S324X variant is not observed in large population cohorts (Lek et al., 2016).

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