ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln) (rs397514673)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000034356 SCV000963898 uncertain significance SeSAME syndrome 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 175 of the KCNJ10 protein (p.Arg175Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs397514673, ExAC 0.01%). This variant has been observed in an individual affected with EAST syndrome (PMID: 20651251). ClinVar contains an entry for this variant (Variation ID: 41471). This variant has been reported to affect KCNJ10 protein function (PMID:20651251). 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.
OMIM RCV000034356 SCV000058338 pathogenic SeSAME syndrome 2010-08-10 no assertion criteria provided literature only

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