ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1000G>A (p.Ala334Thr)

gnomAD frequency: 0.00001  dbSNP: rs754385480
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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 RCV000646089 SCV000767846 uncertain significance Chromosome 2q32-q33 deletion syndrome 2020-03-10 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SATB2-related disease. This variant is present in population databases (rs754385480, ExAC 0.001%). This sequence change replaces alanine with threonine at codon 334 of the SATB2 protein (p.Ala334Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.

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