ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.869A>T (p.Lys290Ile)

dbSNP: rs1808950153
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213304 SCV001384930 pathogenic Lethal congenital glycogen storage disease of heart 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 290 of the PRKAG2 protein (p.Lys290Ile). ClinVar contains an entry for this variant (Variation ID: 943169). This missense change has been observed in individual(s) with Wolff-Parkinson-White syndrome and ventricular hypertrophy (PMID: 28690312). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt PRKAG2 protein function.

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