ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.439G>C (p.Asp147His)

gnomAD frequency: 0.00044  dbSNP: rs79568162
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704051 SCV000171199 benign not provided 2018-11-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28525812, 23529024, 23496026, 26561923, 23532549, 25522171, 22101681, 24594579, 31124310)
Eurofins Ntd Llc (ga) RCV000175976 SCV000227556 benign not specified 2015-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000456838 SCV000554857 benign Episodic kinesigenic dyskinesia 2025-01-29 criteria provided, single submitter clinical testing
Mendelics RCV000989591 SCV001140082 benign Episodic kinesigenic dyskinesia 1 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326837 SCV002633316 benign Inborn genetic diseases 2017-08-30 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics RCV002505095 SCV002804904 likely benign Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis 2022-05-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001704051 SCV001978084 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001704051 SCV001979783 likely benign not provided no assertion criteria provided clinical testing

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