ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.828C>T (p.Cys276=)

gnomAD frequency: 0.00043  dbSNP: rs35625748
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153785 SCV000203363 likely benign not specified 2018-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001537797 SCV000514282 benign not provided 2019-08-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24594579)
Labcorp Genetics (formerly Invitae), Labcorp RCV000865807 SCV001006828 benign Episodic kinesigenic dyskinesia 2024-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426733 SCV002677248 benign Inborn genetic diseases 2020-01-03 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.
PreventionGenetics, part of Exact Sciences RCV004532733 SCV004722120 likely benign PRRT2-related disorder 2019-08-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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