ClinVar Miner

Submissions for variant NM_001348800.3(ZBTB20):c.152C>G (p.Ser51Ter)

gnomAD frequency: 0.00001  dbSNP: rs1064796308
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481937 SCV000572896 uncertain significance not provided 2018-08-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZBTB20 gene. The S51X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The S51X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Diagnostic Laboratory, Strasbourg University Hospital RCV001260806 SCV001437899 likely benign Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing

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