ClinVar Miner

Submissions for variant NM_177559.3(CSNK2A1):c.921T>G (p.Tyr307Ter)

dbSNP: rs760778054
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546037 SCV001765481 likely pathogenic not provided 2020-01-20 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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