ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.574G>A (p.Gly192Ser)

gnomAD frequency: 0.00009  dbSNP: rs200475773
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598423 SCV000705010 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000598423 SCV001021343 benign not provided 2024-10-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000598423 SCV001334558 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000598423 SCV001995072 uncertain significance not provided 2023-08-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004543355 SCV004764915 uncertain significance SOX10-related disorder 2024-02-08 no assertion criteria provided clinical testing The SOX10 c.574G>A variant is predicted to result in the amino acid substitution p.Gly192Ser. To our knowledge, this variant has not been reported in literature. This variant has been reported at a frequency of ~0.022% in individuals of European (Non-Finnish) origin in a large population database and has been reported in ClinVar with conflicting interpretations (https://www.ncbi.nlm.nih.gov/clinvar/variation/499498/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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