ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1529A>G (p.Lys510Arg)

gnomAD frequency: 0.00001  dbSNP: rs370899599
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707278 SCV000836368 uncertain significance Lethal congenital glycogen storage disease of heart 2021-12-21 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 510 of the PRKAG2 protein (p.Lys510Arg). This variant is present in population databases (rs370899599, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 583049). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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