ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1187A>G (p.Glu396Gly)

dbSNP: rs1688108235
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052478 SCV001216690 pathogenic Chromosome 2q32-q33 deletion syndrome 2019-12-16 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of glass syndrome (Invitae). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Glu396 amino acid residue in SATB2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26596517). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This sequence change replaces glutamic acid with glycine at codon 396 of the SATB2 protein (p.Glu396Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine.

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