ClinVar Miner

Submissions for variant NM_000111.3(SLC26A3):c.142C>G (p.Gln48Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005065589 SCV005691035 uncertain significance not provided 2024-08-06 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 48 of the SLC26A3 protein (p.Gln48Glu). This variant is present in population databases (rs780867682, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SLC26A3-related conditions. 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 SLC26A3 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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