ClinVar Miner

Submissions for variant NM_001348800.3(ZBTB20):c.1727dup (p.Pro577fs)

dbSNP: rs2108200372
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003546730 SCV004262845 pathogenic not provided 2024-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro577Alafs*3) in the ZBTB20 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZBTB20 are known to be pathogenic (PMID: 32071410). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ZBTB20-related conditions. ClinVar contains an entry for this variant (Variation ID: 1339418). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Goettingen RCV001824014 SCV002061326 likely pathogenic Primrose syndrome 2021-11-16 no assertion criteria provided clinical testing PRIMROSE SYNDROME

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