ClinVar Miner

Submissions for variant NM_003108.4(SOX11):c.1153G>A (p.Ala385Thr)

dbSNP: rs2103277224
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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 RCV002227593 SCV002506630 uncertain significance Intellectual disability, autosomal dominant 27 2021-04-30 criteria provided, single submitter clinical testing The heterozygousc.1153G>A (p.Ala385Thr) missense variant identified in the SOX11 gene has not been reported in affected individuals in the literature. The variant is absent from the gnomAD(v3) database suggesting it is not a common benign variant in the populations represented in that database. In silico tools provide conflicting predictions about potential pathogenicity of this variant [CADD score = 22.8, REVEL score = 0.210). Based on the available evidence, the heterozygous c.1153G>A (p.Ala385Thr) missense variant identified in the SOX11 gene is reported as a variant of uncertain significance.

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