ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.47C>G (p.Ser16Ter)

gnomAD frequency: 0.00002  dbSNP: rs370370334
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734958 SCV000863140 pathogenic not provided 2018-08-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000024089 SCV003836410 pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2022-03-18 criteria provided, single submitter clinical testing
Invitae RCV000024089 SCV004294653 pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser16*) in the ZBTB24 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZBTB24 are known to be pathogenic (PMID: 21596365). This variant is present in population databases (rs370370334, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with immunodeficiency-centromeric instability-facial anomalies syndrome (PMID: 21596365). ClinVar contains an entry for this variant (Variation ID: 598541). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024089 SCV000045380 pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2011-06-10 no assertion criteria provided literature only

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