ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.505G>A (p.Gly169Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003012139 SCV003307938 uncertain significance Anophthalmia/microphthalmia-esophageal atresia syndrome 2022-02-08 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 C55"). This variant has not been reported in the literature in individuals affected with SOX2-related conditions. This variant is present in population databases (rs771393751, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 169 of the SOX2 protein (p.Gly169Ser).

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