ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1052-4A>G

dbSNP: rs977597576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788238 SCV000927287 uncertain significance not provided 2017-06-10 criteria provided, single submitter clinical testing
Invitae RCV001445232 SCV001648257 likely benign Lethal congenital glycogen storage disease of heart 2022-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000788238 SCV001812242 uncertain significance not provided 2019-05-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Located in a region that tolerates variation and lacks pathogenic variants
CeGaT Center for Human Genetics Tuebingen RCV000788238 SCV004156982 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing PRKAG2: PM2, BP4

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