ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.410A>G (p.Asn137Ser)

gnomAD frequency: 0.00001  dbSNP: rs869025498
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657859 SCV000779618 uncertain significance not provided 2019-04-10 criteria provided, single submitter clinical testing Not observed [at a significant frequency] in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Color Diagnostics, LLC DBA Color Health RCV003532227 SCV004359762 uncertain significance Cardiomyopathy 2022-05-10 criteria provided, single submitter clinical testing This missense variant replaces asparagine with serine at codon 137 of the PRKAG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/251288 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003617856 SCV004523590 likely benign Lethal congenital glycogen storage disease of heart 2023-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004985057 SCV005477195 uncertain significance Cardiovascular phenotype 2024-09-08 criteria provided, single submitter clinical testing The c.410A>G (p.N137S) alteration is located in exon 3 (coding exon 3) of the PRKAG2 gene. This alteration results from a A to G substitution at nucleotide position 410, causing the asparagine (N) at amino acid position 137 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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