ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.2167del (p.Ser723fs)

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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 RCV003741854 SCV004487390 uncertain significance Chromosome 2q32-q33 deletion syndrome 2022-12-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SATB2-related conditions. This sequence change results in a frameshift in the SATB2 gene (p.Ser723Alafs*17). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acid(s) of the SATB2 protein and extend the protein by 5 additional amino acid residues.

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