ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.917T>A (p.Leu306His)

dbSNP: rs1688732391
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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 RCV001350997 SCV001545429 uncertain significance Chromosome 2q32-q33 deletion syndrome 2023-12-08 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 306 of the SATB2 protein (p.Leu306His). This variant is not present in population databases (gnomAD no frequency). 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: 1046438). 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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