ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.215C>G (p.Ser72Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003742187 SCV004448772 uncertain significance Chromosome 2q32-q33 deletion syndrome 2023-03-31 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with SATB2-related conditions. This variant is present in population databases (rs755238845, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 72 of the SATB2 protein (p.Ser72Cys).
Ambry Genetics RCV004661726 SCV005158504 uncertain significance Inborn genetic diseases 2024-05-24 criteria provided, single submitter clinical testing The c.215C>G (p.S72C) alteration is located in exon 4 (coding exon 2) of the SATB2 gene. This alteration results from a C to G substitution at nucleotide position 215, causing the serine (S) at amino acid position 72 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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