ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.761C>T (p.Ser254Leu) (rs577915581)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498412 SCV000590492 pathogenic not provided 2017-06-16 criteria provided, single submitter clinical testing The S251L and S254L missense variants in the GAA gene typically occur on the same chromosome (in cis) and are considered to be a common pathogenic variant (Labrousse et al., 2010). They have been reported in the homozygous state in individuals with Pompe disease as well as in individuals with Pompe disease with another GAA variant identified (Chien et al., 2011; Liao et al., 2014). Functional studies suggest that S251L and S254L result in decreased enzyme activity (Kroos et al., 2012).
Illumina Clinical Services Laboratory,Illumina RCV000285433 SCV000407271 likely pathogenic Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000285433 SCV000626639 likely benign Glycogen storage disease, type II 2017-07-24 criteria provided, single submitter clinical testing

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