ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.694G>A (p.Ala232Thr)

gnomAD frequency: 0.00006  dbSNP: rs201318038
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662086 SCV000784423 uncertain significance Familial hypokalemia-hypomagnesemia 2018-03-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000662086 SCV002812912 uncertain significance Familial hypokalemia-hypomagnesemia 2024-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530592 SCV003443525 uncertain significance not provided 2022-05-21 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 232 of the SLC12A3 protein (p.Ala232Thr). This variant is present in population databases (rs201318038, gnomAD 0.2%). This missense change has been observed in individual(s) with clinical features of SLC12A3-related conditions (PMID: 24696311). This variant is also known as A230T . ClinVar contains an entry for this variant (Variation ID: 548560). 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 SLC12A3 protein function. Experimental studies have shown that this missense change affects SLC12A3 function (PMID: 21157372). 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.
Baylor Genetics RCV000662086 SCV004040792 uncertain significance Familial hypokalemia-hypomagnesemia 2023-02-01 criteria provided, single submitter clinical testing

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