ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.148_859-11del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781388 SCV000919374 pathogenic Glycogen storage disease, type II 2017-12-11 criteria provided, single submitter clinical testing Variant summary: The GAA c.148_859-11del (p.Gly50HisfsX37) variant involves a deletion spanning exons 2-4. The frequency of this variant in the general population could not be determined as the technology used for large population databases (gnomAD, ExAC, ESP, 1000G) cannot detect deletions of this size. Multiple publications, McCready_20007 and Kishnani_2006, have cited the variant in compound heterozygote and homozygote pts presenting with no GAA activity. However, the variant of interest has not, to our knowledge, been cited by clinical diagnostic laboratories, although reputable databases have cited the variant. Taken together, this variant is classified as pathogenic.

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