Submissions for variant NM_001172509.2(SATB2):c.71A>G (p.Lys24Arg)

gnomAD frequency: 0.00001  dbSNP: rs1176416627

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002046749	SCV002117306	uncertain significance	Chromosome 2q32-q33 deletion syndrome	2021-09-25	criteria provided, single submitter	clinical testing	The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces lysine with arginine at codon 24 of the SATB2 protein (p.Lys24Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant has not been reported in the literature in individuals affected with SATB2-related conditions. 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 not expected to disrupt SATB2 protein function.