ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1434C>T (p.Gly478=)

gnomAD frequency: 0.00109  dbSNP: rs149056216
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000646099 SCV000767856 benign Chromosome 2q32-q33 deletion syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001530760 SCV001745657 benign not provided 2019-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388108 SCV002702831 benign Inborn genetic diseases 2019-06-07 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences RCV004533385 SCV004752767 likely benign SATB2-related disorder 2019-07-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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