ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.704C>T (p.Thr235Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003079274 SCV003462394 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 235 of the SLC12A3 protein (p.Thr235Met). This variant is present in population databases (rs369344478, gnomAD 0.03%). This missense change has been observed in individual(s) with Gitelman syndrome (PMID: 30596175). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV003138490 SCV003823310 uncertain significance Familial hypokalemia-hypomagnesemia 2019-09-29 criteria provided, single submitter clinical testing

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