ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.638A>G (p.Asn213Ser)

gnomAD frequency: 0.00001  dbSNP: rs1371535617
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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 RCV000804525 SCV000944439 uncertain significance Chromosome 2q32-q33 deletion syndrome 2018-08-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 213 of the SATB2 protein (p.Asn213Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SATB2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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