ClinVar Miner

Submissions for variant NM_000152.4(GAA):c.1841C>A (p.Thr614Lys) (rs369531647)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000591376 SCV000791287 likely pathogenic Glycogen storage disease, type II 2017-05-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723464 SCV000700459 pathogenic not provided 2018-02-28 criteria provided, single submitter clinical testing
Invitae RCV000591376 SCV000823521 uncertain significance Glycogen storage disease, type II 2018-05-15 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 614 of the GAA protein (p.Thr614Lys). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and lysine. This variant is present in population databases (rs369531647, ExAC 0.004%). This variant has been reported in several individuals, who carried a second variant in GAA, affected with Pompe disease (PMID: 24590251, 27708273, 21484825). ClinVar contains an entry for this variant (Variation ID: 167113). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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