ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.424A>G (p.Thr142Ala)

dbSNP: rs2076650288
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067812 SCV001232893 uncertain significance Lethal congenital glycogen storage disease of heart 2019-06-03 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 142 of the PRKAG2 protein (p.Thr142Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRKAG2-related conditions. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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