ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1637C>G (p.Ser546Cys)

gnomAD frequency: 0.00001  dbSNP: rs1584912413
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001525304 SCV001735363 uncertain significance Cardiomyopathy 2023-03-01 criteria provided, single submitter clinical testing This missense variant replaces serine with cysteine at codon 546 of the PRKAG2 protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with PRKAG2-related disorders in the literature. This variant has not been identified 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.
Ambry Genetics RCV002388574 SCV002703022 uncertain significance Cardiovascular phenotype 2024-07-30 criteria provided, single submitter clinical testing The c.1637C>G (p.S546C) alteration is located in exon 15 (coding exon 15) of the PRKAG2 gene. This alteration results from a C to G substitution at nucleotide position 1637, causing the serine (S) at amino acid position 546 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004008834 SCV004842196 uncertain significance Hypertrophic cardiomyopathy 2023-04-27 criteria provided, single submitter clinical testing This missense variant replaces serine with cysteine at codon 546 of the PRKAG2 protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with PRKAG2-related disorders in the literature. This variant has not been identified 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.

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