ClinVar Miner

Submissions for variant NM_003108.4(SOX11):c.538G>A (p.Ala180Thr)

gnomAD frequency: 0.00002  dbSNP: rs1297634063
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001291810 SCV001480431 uncertain significance Intellectual disability, autosomal dominant 27 2020-05-26 criteria provided, single submitter clinical testing The c.538G>A (p.Ala180Thr) variant identified in the SOX11 gene of this individual substitutes a moderately conserved Alanine for Threonine at amino acid 180/442 (coding exon 1/1). This variant is found with low frequency in gnomAD(v3.0) (3 heterozygotes, 0 homozygotes; allele frequency: 2.11e-5) suggesting it is not a common benign variant in the populations represented in this database. In silico algorithms predict this variant to be Neutral (Provean; score:-0.48) and Tolerated (SIFT; score:0.401) to the function of the canonical transcript. The p.Ala180 residue is not within a mapped domain of SOX11 (UniProtKB: P35716). Given the lack of compelling evidence for its pathogenicity, the c.538G>A (p.Ala180Thr) variant identified in the SOX11 gene is reported here as a Variant of Uncertain Significance.

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