ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) (rs28937909)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409137 SCV000485382 pathogenic Glycogen storage disease, type II 2016-09-09 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788193 SCV000927226 pathogenic not provided 2017-04-10 criteria provided, single submitter clinical testing
Invitae RCV000409137 SCV000937212 pathogenic Glycogen storage disease, type II 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 643 of the GAA protein (p.Gly643Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs28937909, ExAC 0.009%). This variant has been observed in several individuals affected with Pompe disease. (PMID: 8401535, 24158270,18607768). ClinVar contains an entry for this variant (Variation ID: 4023). This variant has been reported to disrupt GAA protein function (PMID: 8401535). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000409137 SCV001140842 pathogenic Glycogen storage disease, type II 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000004238 SCV000024404 pathogenic Glycogen storage disease II, adult form 1993-01-01 no assertion criteria provided literature only

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