ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.945A>G (p.Val315=)

gnomAD frequency: 0.00003  dbSNP: rs759393540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249935 SCV000312631 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000819173 SCV000959819 uncertain significance Lethal congenital glycogen storage disease of heart 2022-07-29 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 is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 260698). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. This variant is present in population databases (rs759393540, gnomAD 0.02%). This sequence change affects codon 315 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 affects a nucleotide within the consensus splice site.
All of Us Research Program, National Institutes of Health RCV003998997 SCV004816498 likely benign Hypertrophic cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing

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