ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1372T>G (p.Ser458Ala)

dbSNP: rs1554455000
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521039 SCV000620711 uncertain significance not provided 2019-12-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224311 SCV003920350 uncertain significance Lethal congenital glycogen storage disease of heart; Hypertrophic cardiomyopathy 6; Wolff-Parkinson-White pattern 2021-03-30 criteria provided, single submitter clinical testing PRKAG2 NM_016203.3 exon 12 p.Ser458Ala (c.1372T>G): This variant has not been reported in the literature and is not present in large control databases. This variant is present in ClinVar (Variation ID:451944). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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