ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) (rs991082382)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586125 SCV000695643 pathogenic Glycogen storage disease, type II 2016-09-22 criteria provided, single submitter clinical testing Variant summary: The GAA c.1735G>A (p.Glu579Lys) variant located in the glycoside hydrolase superfamily domain (via InterPro) causes a missense change involving a conserved nucleotide with 4/5 in silico tools predicting a "damaging" outcome, which is supported by multiple functional studies. The variant of interest was not observed in controls (ExAC, 1000 Gs or ESP) and multiple publications cite the variant in compound heterozygote affected individuals. Therefore, the variant of interest has been classified as Pathogenic.
Counsyl RCV000586125 SCV001132195 likely pathogenic Glycogen storage disease, type II 2018-12-27 no assertion criteria provided clinical testing

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