ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.114G>C (p.Pro38=)

dbSNP: rs397517261
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533952 SCV000640339 uncertain significance Lethal congenital glycogen storage disease of heart 2018-09-13 criteria provided, single submitter clinical testing In summary, this is a novel silent change with uncertain impact on splicing. 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 alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PRKAG2-related disease. This sequence change affects codon 38 of the PRKAG2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PRKAG2 protein. It falls at the last nucleotide of exon 1 of the PRKAG2 coding sequence.

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