ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)

gnomAD frequency: 0.00006  dbSNP: rs144857453
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Total submissions: 7
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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 RCV004017323 SCV000062591 uncertain significance Primary dilated cardiomyopathy 2023-03-28 criteria provided, single submitter clinical testing The p.Ala44Thr variant in PRKAG2 is classified as likely benign because It has also been identified in 0.3% (16/5190) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.3.1.2), and computational prediction tools and conservation analyses suggest that this variant may not impact the protein. ACMG/AMP criteria applied: BS1, BP4.
GeneDx RCV000766630 SCV000208976 likely benign not provided 2019-10-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26265630, 32150461)
Labcorp Genetics (formerly Invitae), Labcorp RCV001087117 SCV000561806 likely benign Lethal congenital glycogen storage disease of heart 2025-01-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770265 SCV000901697 uncertain significance Cardiomyopathy 2016-10-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770265 SCV000913795 likely benign Cardiomyopathy 2018-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381313 SCV002693807 likely benign Cardiovascular phenotype 2020-09-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000038913 SCV000280423 uncertain significance not specified 2012-07-30 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. p.Ala44Thr (c.130G>A) in the PRKAG2 gene. This is a non-conservative amino acid change with a nonpolar, hydrophobic Alanine replaced with a polar, hydrophilic Threonine. There are no reported disease associated variants in nearby codons (Google, NCBI). Alanine is conserved up to amphibians at codon 44 in the PRKAG2 gene. In silico analysis (PolyPhen2) classifies this variant as damaging to protein structure/function. It is not listed in dbSNP (as of August 2nd, 2011).

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