ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) (rs76335820)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188771 SCV000242395 likely benign not specified 2016-06-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000791448 SCV000820972 uncertain significance Paroxysmal kinesigenic dyskinesia 2020-09-09 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 216 of the PRRT2 protein (p.Pro216Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs76335820, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been reported in an individual affected with paroxysmal dyskinesia; however, it was also present in an unaffected parent and an unaffected sibling of this individual. The affected individual also carried a second (c.510dupT) variant in PRRT2. Therefore the clinical significance of this missense change is unclear (PMID: 23190448). ClinVar contains an entry for this variant (Variation ID: 65757). This variant has been reported not to substantially affect PRRT2 protein function (PMID: 31124310). 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.
Mendelics RCV000055990 SCV001140085 likely benign Episodic kinesigenic dyskinesia 1 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332952 SCV001525398 uncertain significance Infantile convulsions and choreoathetosis 2019-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneReviews RCV000055990 SCV000087044 pathologic Episodic kinesigenic dyskinesia 1 2013-06-27 no assertion criteria provided curation Converted during submission to Pathogenic.

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