ClinVar Miner

Submissions for variant NM_000152.3(GAA):c.1195-19_2190-17del

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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 RCV000780267 SCV000917386 pathogenic Glycogen storage disease, type II 2018-01-26 criteria provided, single submitter clinical testing Variant summary: The c.1195-19_2190-17del (p.Asp399ValfsX6) variant involves the deletion of multiple exons of the GAA gene. The frequency of this variant in the general population could not be determined since the large population databases (e.g., ExAC, gnomAD) do not report deletions of this size. The variant has been reported in at least two Pompe disease patients, both with infantile-onset and severe symptoms, as a compound heterozygous with a splice-site mutation and as a homozygous allele respectively (Huie_2002, Mori_2017). GAA enzyme activity was undetectable in the compound heterozygous patient's muscle cells, suggesting the variant is a null allele (Huie_2002). Taken together, this variant is classified as pathogenic.

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