ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.820G>A (p.Val274Ile)

gnomAD frequency: 0.00001  dbSNP: rs917493455
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799345 SCV002043495 uncertain significance Cardiomyopathy 2019-09-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868907 SCV002201133 likely benign Lethal congenital glycogen storage disease of heart 2022-06-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734277 SCV005360344 uncertain significance PRKAG2-related disorder 2024-08-31 no assertion criteria provided clinical testing The PRKAG2 c.820G>A variant is predicted to result in the amino acid substitution p.Val274Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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