ClinVar Miner

Submissions for variant NM_000152.4(GAA):c.2173C>T (p.Arg725Trp) (rs121907938)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169045 SCV000220203 likely pathogenic Glycogen storage disease, type II 2014-03-27 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000169045 SCV000695648 pathogenic Glycogen storage disease, type II 2016-12-15 criteria provided, single submitter clinical testing Variant summary: The GAA c.2173C>T (p.Arg725Trp) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 1/44258 control chromosomes at a frequency of 0.0000226, which does not exceed the estimated maximal expected allele frequency of a pathogenic GAA variant (0.0042205). This variant has been reported in at least 5 patients with Pompe disease (3 juvenile and 2 adult). Functional studies showed GAA p.R725W had less than 10% residual activity. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely pathogenic/pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000004239 SCV000024405 pathogenic Glycogen storage disease II, adult form 1993-01-01 no assertion criteria provided literature only

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