ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.770A>G (p.Asn257Ser)

dbSNP: rs2105823534
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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 RCV002008349 SCV002271725 uncertain significance Chromosome 2q32-q33 deletion syndrome 2020-12-21 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 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SATB2 protein function. This variant has not been reported in the literature in individuals with SATB2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 257 of the SATB2 protein (p.Asn257Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine.
Fulgent Genetics, Fulgent Genetics RCV002008349 SCV002816474 uncertain significance Chromosome 2q32-q33 deletion syndrome 2022-04-06 criteria provided, single submitter clinical testing

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