ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.424G>C (p.Gly142Arg)

dbSNP: rs1560264525
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701174 SCV000829960 uncertain significance Anophthalmia/microphthalmia-esophageal atresia syndrome 2018-06-01 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This sequence change replaces glycine with arginine at codon 142 of the SOX2 protein (p.Gly142Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SOX2-related disease.

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