ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.173C>G (p.Pro58Arg)

dbSNP: rs1567378768
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002232812 SCV000825155 uncertain significance Episodic kinesigenic dyskinesia 2020-03-04 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 58 of the PRRT2 protein (p.Pro58Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PRRT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 560656). This variant is not present in population databases (ExAC no frequency).
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678832 SCV000805020 uncertain significance Complex febrile seizure 2016-10-13 no assertion criteria provided clinical testing

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