ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.147C>T (p.Gly49=)

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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 RCV002934004 SCV003277417 uncertain significance Chromosome 2q32-q33 deletion syndrome 2021-12-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SATB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 49 of the SATB2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SATB2 protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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