ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.1081G>A (p.Ala361Thr)

gnomAD frequency: 0.00001  dbSNP: rs770105416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262265 SCV001440068 likely benign Waardenburg syndrome type 4C 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV002537632 SCV003456719 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 361 of the SOX10 protein (p.Ala361Thr). This variant is present in population databases (rs770105416, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with SOX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 982663). 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 SOX10 protein function with a negative predictive value of 80%. 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.

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