ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.634G>T (p.Ala212Ser)

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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 RCV003854027 SCV004696253 uncertain significance Chromosome 2q32-q33 deletion syndrome 2023-02-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SATB2-related conditions. 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. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 212 of the SATB2 protein (p.Ala212Ser).

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