ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.1091A>C (p.Lys364Thr)

dbSNP: rs200485502
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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 RCV002029800 SCV002115914 uncertain significance not provided 2023-07-07 criteria provided, single submitter clinical testing 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 SLC12A6 protein function. ClinVar contains an entry for this variant (Variation ID: 1346024). This variant has not been reported in the literature in individuals affected with SLC12A6-related conditions. This variant is present in population databases (rs200485502, gnomAD 0.006%). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 364 of the SLC12A6 protein (p.Lys364Thr). 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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