ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1005+6T>C

dbSNP: rs1554464077
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641190 SCV000762828 uncertain significance Lethal congenital glycogen storage disease of heart 2022-11-01 criteria provided, single submitter clinical testing Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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: 533884). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 8 of the PRKAG2 gene. It does not directly change the encoded amino acid sequence of the PRKAG2 protein. It affects a nucleotide within the consensus splice site. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003480729 SCV004224122 uncertain significance not provided 2023-06-21 criteria provided, single submitter clinical testing PM2

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