ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.684C>T (p.Ala228=)

gnomAD frequency: 0.00001  dbSNP: rs151108625
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470431 SCV000551576 uncertain significance Lethal congenital glycogen storage disease of heart 2022-10-05 criteria provided, single submitter clinical testing This sequence change affects codon 228 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. This variant is present in population databases (rs151108625, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 410719). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Color Diagnostics, LLC DBA Color Health RCV001181625 SCV001346808 likely benign Cardiomyopathy 2019-10-14 criteria provided, single submitter clinical testing
GeneDx RCV001712420 SCV001940052 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365654 SCV002665523 likely benign Cardiovascular phenotype 2021-08-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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