ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.187-3C>T

gnomAD frequency: 0.00001  dbSNP: rs972389122
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001296541 SCV001485507 uncertain significance Lethal congenital glycogen storage disease of heart 2020-03-25 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the PRKAG2 gene. It does not directly change the encoded amino acid sequence of the PRKAG2 protein, but it affects a nucleotide within the consensus splice site of the intron. 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 conditions. Nucleotide substitutions within 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 create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Fulgent Genetics, Fulgent Genetics RCV002476380 SCV002794340 uncertain significance Lethal congenital glycogen storage disease of heart; Hypertrophic cardiomyopathy 6; Wolff-Parkinson-White pattern 2021-08-25 criteria provided, single submitter clinical testing

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