ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) (rs757111744)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169099 SCV000220288 likely pathogenic Glycogen storage disease, type II 2014-05-02 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725325 SCV000336054 pathogenic not provided 2018-08-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000169099 SCV000407286 pathogenic Glycogen storage disease, type II 2017-04-28 criteria provided, single submitter clinical testing The GAA c.2014C>T (p.Arg672Trp) variant was identified in a compound heterozygous state in at least 11 individuals with late-onset glycogen storage disease type II (Huie et al. 1998; Sharma et al. 2005; Montalvo et al. 2006; Bali et al. 2011; Yang et al. 2011; Carlier et al. 2011; Liu et al. 2014). Control data are unavailable for this variant, but it is reported at a frequency of 0.00008 in the European (non-Finnish) population of the Exome Aggregation Consortium. GAA activity was measured at 0.1-1.0% of normal in fibroblasts from individuals carrying the p.Arg672Trp variant (Bali et al. 2011), and was decreased in muscle and lymphocytes of individuals carrying the variant (Sharma et al. 2005; Liu et al. 2014). Based on the evidence, the p.Arg672Trp variant is classified as pathogenic for glycogen storage disease type II. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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