ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn)

dbSNP: rs28938173
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000211739 SCV000062588 likely pathogenic Hypertrophic cardiomyopathy 2018-01-03 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
PreventionGenetics, part of Exact Sciences RCV003398457 SCV004104515 likely pathogenic PRKAG2-related condition 2023-05-04 criteria provided, single submitter clinical testing The PRKAG2 c.1199C>A variant is predicted to result in the amino acid substitution p.Thr400Asn. This variant has been reported in an individual with cardiac hypertrophy (Family SS, Arad et al 2002. PubMed ID: 11827995). While in vitro functional studies expressing this variant in CCL13 cells could not show evidence of constitutive activation of AMP kinase when compared to wild-type (Scott JW et al. 2004. PubMed ID: 14722619), in vivo functional studies in transgenic mice demonstrate that the mice showed significantly increased cardiac mass/body mass ratios and led to cardiac hypertrophy by inappropriate activation of AMP kinase and glycogen deposition (Banerjee et al. 2010. PubMed ID: 20005292; Ramratnam et al. 2014. PubMed ID: 25092788; Banerjee et al 2007. PubMed ID: 17597581). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.
OMIM RCV000007252 SCV000027448 pathogenic Hypertrophic cardiomyopathy 6 2002-02-01 no assertion criteria provided literature only

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