ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1594C>T (p.Arg532Cys)

dbSNP: rs2105769188
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001873725 SCV002120381 uncertain significance Chromosome 2q32-q33 deletion syndrome 2022-06-27 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with anencephaly (PMID: 31849593). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SATB2 protein function. ClinVar contains an entry for this variant (Variation ID: 1174112). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 532 of the SATB2 protein (p.Arg532Cys).
GeneDx RCV003328679 SCV004035820 uncertain significance not provided 2023-03-27 criteria provided, single submitter clinical testing De novo variant with confirmed parentage in a patient with craniorachischisis in published literature (Wang et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31849593)
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001527649 SCV001738762 uncertain significance Global developmental delay 2020-01-01 no assertion criteria provided clinical testing

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