ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.571G>A (p.Ala191Thr)

gnomAD frequency: 0.00013  dbSNP: rs104893808
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624040 SCV000742521 uncertain significance Inborn genetic diseases 2016-10-18 criteria provided, single submitter clinical testing
Invitae RCV002513019 SCV003250094 uncertain significance Anophthalmia/microphthalmia-esophageal atresia syndrome 2023-07-21 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. Experimental studies have shown that this missense change does not substantially affect SOX2 function (PMID: 16932809). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SOX2 protein function. ClinVar contains an entry for this variant (Variation ID: 12826). This missense change has been observed in individual(s) with SOX2-related conditions (PMID: 16932809). This variant is present in population databases (rs104893808, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 191 of the SOX2 protein (p.Ala191Thr).
OMIM RCV000013674 SCV000033921 pathogenic Optic nerve hypoplasia and abnormalities of the central nervous system 2006-09-01 no assertion criteria provided literature only

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