ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.841C>G (p.Pro281Ala)

dbSNP: rs752392251
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001837098 SCV002097473 uncertain significance not provided 2022-01-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002545207 SCV003579871 uncertain significance Inborn genetic diseases 2021-10-20 criteria provided, single submitter clinical testing The c.841C>G (p.P281A) alteration is located in exon 8 (coding exon 6) of the SATB2 gene. This alteration results from a C to G substitution at nucleotide position 841, causing the proline (P) at amino acid position 281 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003772354 SCV004637996 uncertain significance Chromosome 2q32-q33 deletion syndrome 2023-06-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1341602). 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 (rs752392251, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 281 of the SATB2 protein (p.Pro281Ala).

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