ClinVar Miner

Submissions for variant NM_001348800.3(ZBTB20):c.1916G>T (p.Cys639Phe)

dbSNP: rs2079589483
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002255781 SCV002526709 pathogenic Primrose syndrome 2022-05-19 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2, PM1, PM5, PP4_MOD, PM2_SUP, PP2, PP3
Neuberg Centre For Genomic Medicine, NCGM RCV002255781 SCV005849407 pathogenic Primrose syndrome 2023-06-22 criteria provided, single submitter clinical testing The missesnse c.1916G>T(p.Cys639Phe) variant in ZBTB20 gene has been reported in individuals affected with Primrose syndrome (Arora V, et. al., 2020; Schon KR, et. al., 2021). The p.Cys639Phe variant is absent in gnomAD Exomes. This variant has been reported to the ClinVar database as Pathogenic. Multiple lines of computational evidence (Polyphen - Probably Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict damaging effect on protein structure and function for this variant. Another missense [c.1916G>A;p.Cys639Tyr] has been reported at the same residue which is found to be disease causing. The reference amino acid at this position in ZBTB20 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Cys at position 639 is changed to a Phe changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Pathogenic.

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