ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.143G>C (p.Arg48Pro)

dbSNP: rs201907875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824215 SCV000965104 uncertain significance EAST syndrome 2021-03-08 criteria provided, single submitter clinical testing 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. 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 C0"). This variant has not been reported in the literature in individuals with KCNJ10-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with proline at codon 48 of the KCNJ10 protein (p.Arg48Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline.
New York Genome Center RCV000824215 SCV001480328 uncertain significance EAST syndrome 2019-09-17 criteria provided, single submitter clinical testing

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