ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.650del (p.Arg217fs)

dbSNP: rs730882124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001553390 SCV001774250 likely pathogenic not provided 2019-04-29 criteria provided, single submitter clinical testing Identified in family with HM and BFIS and found to segregrate with BFIS phenotype (Pelzer et al., 2014); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32613771, 31154286, 12953268, 9579893, 24928127)
OMIM RCV000161142 SCV000211868 pathogenic Seizures, benign familial infantile, 2 2014-07-15 no assertion criteria provided literature only

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