ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.742G>T (p.Ala248Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003084142 SCV003469654 uncertain significance Anophthalmia/microphthalmia-esophageal atresia syndrome 2022-09-02 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 248 of the SOX2 protein (p.Ala248Ser). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SOX2-related conditions. This variant is present in population databases (rs778665464, gnomAD 0.002%).

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