ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu) (rs139069413)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503569 SCV000595306 uncertain significance not specified 2015-09-03 criteria provided, single submitter clinical testing
Invitae RCV000558913 SCV000647876 uncertain significance SeSAME syndrome 2018-12-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 100 of the KCNJ10 protein (p.Asp100Glu). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs139069413, ExAC 0.03%). This variant has not been reported in the literature in individuals with KCNJ10-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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