ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1403C>T (p.Pro468Leu)

gnomAD frequency: 0.00001  dbSNP: rs746076990
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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 RCV001302519 SCV001491732 uncertain significance Chromosome 2q32-q33 deletion syndrome 2023-12-25 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 468 of the SATB2 protein (p.Pro468Leu). This variant is present in population databases (rs746076990, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with SATB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1005615). 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 with a negative predictive value of 95%. 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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