ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala)

gnomAD frequency: 0.00560  dbSNP: rs79182085
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426092 SCV000171198 benign not provided 2018-11-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23063574, 23496026, 28525812, 23529024, 23436308, 22101681, 23532549, 25522171, 31124310)
Eurofins Ntd Llc (ga) RCV000118065 SCV000203359 benign not specified 2014-04-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000118065 SCV000307124 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000426092 SCV000510713 benign not provided 2016-11-16 criteria provided, single submitter clinical testing
Invitae RCV001080628 SCV000554859 benign Episodic kinesigenic dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312240 SCV000845846 benign Inborn genetic diseases 2016-02-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mendelics RCV000471449 SCV001140081 benign Episodic kinesigenic dyskinesia 1 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000426092 SCV001145206 benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118065 SCV000152394 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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