ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1420A>G (p.Ile474Val)

dbSNP: rs765116524
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040549 SCV001204129 uncertain significance Chromosome 2q32-q33 deletion syndrome 2023-05-25 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 838898). This variant has not been reported in the literature in individuals affected with SATB2-related conditions. This variant is present in population databases (rs765116524, gnomAD 0.01%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 474 of the SATB2 protein (p.Ile474Val).
Ambry Genetics RCV004031143 SCV004943318 likely benign Inborn genetic diseases 2024-01-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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