Submissions for variant NM_001172509.2(SATB2):c.410C>T (p.Ala137Val)

gnomAD frequency: 0.00001  dbSNP: rs746240750

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001368566	SCV001564964	uncertain significance	Chromosome 2q32-q33 deletion syndrome	2022-10-25	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: 1059312). This variant has not been reported in the literature in individuals affected with SATB2-related conditions. This variant is present in population databases (rs746240750, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 137 of the SATB2 protein (p.Ala137Val).
CeGaT Center for Human Genetics Tuebingen	RCV003883618	SCV004702011	uncertain significance	not provided	2023-12-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004734148	SCV005348420	uncertain significance	SATB2-related disorder	2024-05-02	no assertion criteria provided	clinical testing	The SATB2 c.410C>T variant is predicted to result in the amino acid substitution p.Ala137Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.