ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.689C>T (p.Ala230Val)

dbSNP: rs1554507908
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619555 SCV000740102 uncertain significance Cardiovascular phenotype 2016-12-29 criteria provided, single submitter clinical testing The p.A230V variant (also known as c.689C>T), located in coding exon 5 of the PRKAG2 gene, results from a C to T substitution at nucleotide position 689. The alanine at codon 230 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769248 SCV000900624 uncertain significance Cardiomyopathy 2017-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860413 SCV002148066 uncertain significance Lethal congenital glycogen storage disease of heart 2021-09-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PRKAG2 protein function. ClinVar contains an entry for this variant (Variation ID: 520332). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. This sequence change replaces alanine with valine at codon 230 of the PRKAG2 protein (p.Ala230Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine.

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