ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) (rs780321415)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169394 SCV000220788 likely pathogenic Glycogen storage disease, type II 2014-10-14 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723528 SCV000700543 pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000169394 SCV000893479 pathogenic Glycogen storage disease, type II 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000723528 SCV000890293 pathogenic not provided 2019-01-11 criteria provided, single submitter clinical testing The R870X variant has been reported in a patient with infantile onset glycogen storage disease II (GSDII) who was homozygous for the R870X variant (Swift et al., 2017). The R870X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The R870X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret this variant as pathogenic.

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