ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.686T>C (p.Ile229Thr)

dbSNP: rs1562430302
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001348801 SCV001543118 uncertain significance not provided 2018-04-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 229 of the PARK2 protein (p.Ile229Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PARK2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.

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