ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.211G>A (p.Gly71Ser)

gnomAD frequency: 0.00002  dbSNP: rs756865617
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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 RCV000818908 SCV000959546 uncertain significance Chromosome 2q32-q33 deletion syndrome 2024-01-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 71 of the SATB2 protein (p.Gly71Ser). This variant is present in population databases (rs756865617, gnomAD 0.006%). 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: 661483). 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%. 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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