ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.266A>G (p.Lys89Arg)

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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 RCV002621003 SCV003511220 uncertain significance Chromosome 2q32-q33 deletion syndrome 2023-04-22 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 performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt SATB2 function. ClinVar contains an entry for this variant (Variation ID: 2192229). This variant has not been reported in the literature in individuals affected with SATB2-related conditions. This variant is present in population databases (rs769528257, gnomAD 0.002%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 89 of the SATB2 protein (p.Lys89Arg).
Ambry Genetics RCV002621002 SCV003639892 likely benign Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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