ClinVar Miner

Submissions for variant NM_000346.4(SOX9):c.1330G>A (p.Asp444Asn)

gnomAD frequency: 0.00006  dbSNP: rs551719325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760787 SCV001990567 uncertain significance not provided 2019-07-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002034458 SCV002281654 uncertain significance Camptomelic dysplasia 2022-07-06 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. 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 expected to disrupt SOX9 protein function. ClinVar contains an entry for this variant (Variation ID: 1307369). This variant has not been reported in the literature in individuals affected with SOX9-related conditions. This variant is present in population databases (rs551719325, gnomAD 0.03%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 444 of the SOX9 protein (p.Asp444Asn).

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