ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.142C>T (p.Arg48Cys)

gnomAD frequency: 0.00001  dbSNP: rs754056344
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238790 SCV001411619 uncertain significance EAST syndrome 2020-06-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 48 of the KCNJ10 protein (p.Arg48Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs754056344, ExAC 0.006%). This variant has not been reported in the literature in individuals with KCNJ10-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
GeneDx RCV001568647 SCV001792555 uncertain significance not provided 2020-01-15 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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