ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) (rs1479740763)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726989 SCV000704721 likely pathogenic not provided 2017-01-13 criteria provided, single submitter clinical testing
Counsyl RCV000598534 SCV000800152 uncertain significance Glycogen storage disease, type II 2018-05-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000598534 SCV001554637 likely pathogenic Glycogen storage disease, type II 2021-03-22 criteria provided, single submitter clinical testing Variant summary: GAA c.2236T>C (p.Trp746Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250780 control chromosomes. c.2236T>C has been reported in the literature in individuals affected with Glycogen Storage Disease, Type 2 (Pompe Disease). These data indicate that the variant is likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely pathogenic, and one laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as likely pathogenic until more clinical and experimental data are available.

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