ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.755-1G>A

gnomAD frequency: 0.00001  dbSNP: rs778614872
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001302186 SCV001491384 uncertain significance Lethal congenital glycogen storage disease of heart 2022-03-19 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1005333). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. This variant is present in population databases (rs778614872, gnomAD 0.009%). This sequence change affects an acceptor splice site in intron 5 of the PRKAG2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PRKAG2 cause disease.

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