ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1819_1836del (p.Gly607_His612del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV004549031 SCV005043135 pathogenic Glycogen storage disease, type II 2024-04-06 criteria provided, single submitter clinical testing A heterozygous 18 base pair deletion in exon 13 of the GAA gene that results in deletion of amino acid from codon 607_612. The observed variant c.1819_1836del (p.Gly607_His612del) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant is damaging by MutationTaster2 and DANN. In summary, the variant meets our criteria to be classified as pathogenic.

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