ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu)

dbSNP: rs1553538919
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502290 SCV000596924 likely pathogenic Chromosome 2q32-q33 deletion syndrome 2015-11-24 criteria provided, single submitter clinical testing
GeneDx RCV001584219 SCV001813549 pathogenic not provided 2020-01-14 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28139846, 29436146)
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000502290 SCV002762742 pathogenic Chromosome 2q32-q33 deletion syndrome 2022-06-21 criteria provided, single submitter research ACMG codes:PS2_Strong, PM1_Moderate, PM2_Moderate, PP2_Supporting, PP3_Supporting

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