Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000211739 | SCV000062588 | likely pathogenic | Hypertrophic cardiomyopathy | 2018-01-03 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Prevention |
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 |