ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.1016A>G (p.Tyr339Cys)

gnomAD frequency: 0.00001  dbSNP: rs1596895035
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791928 SCV000931197 uncertain significance Episodic kinesigenic dyskinesia 2022-02-04 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 339 of the PRRT2 protein (p.Tyr339Cys). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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"). ClinVar contains an entry for this variant (Variation ID: 639189). This variant has not been reported in the literature in individuals affected with PRRT2-related conditions. This variant is not present in population databases (gnomAD no frequency).
CeGaT Center for Human Genetics Tuebingen RCV001311442 SCV001501611 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing

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