ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.466+1G>A

dbSNP: rs1563658309
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685671 SCV000813160 uncertain significance Lethal congenital glycogen storage disease of heart 2018-02-16 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the PRKAG2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRKAG2-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PRKAG2 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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