ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1112T>A (p.Phe371Tyr)

gnomAD frequency: 0.00001  dbSNP: rs769892556
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001205816 SCV001377091 uncertain significance Lethal congenital glycogen storage disease of heart 2023-03-18 criteria provided, single submitter clinical testing 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PRKAG2 protein function. ClinVar contains an entry for this variant (Variation ID: 936910). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. This variant is present in population databases (rs769892556, gnomAD 0.008%). This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 371 of the PRKAG2 protein (p.Phe371Tyr).
Color Diagnostics, LLC DBA Color Health RCV003532892 SCV004359743 uncertain significance Cardiomyopathy 2022-11-06 criteria provided, single submitter clinical testing This missense variant replaces phenylalanine with tyrosine at codon 371 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 PRKAG2-related disorders in the literature. This variant has been identified in 2/282718 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.

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