ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2834_2835del (p.Glu945fs)

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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 RCV003486000 SCV004232640 pathogenic Glycogen storage disease, type II 2024-01-25 criteria provided, single submitter clinical testing A homozygous 2 base pair deletion in exon 20 of the GAA gene that results in a frameshift and premature truncation of the protein 72 amino acids downstream to codon 945 was detected. The observed variant c.2834_2835 del (p.Glu945Alafs*72) has not been reported in the gnomAD database. The in silico prediction of the variant is damaging by MutationTaster2. In summary, the variant meets our criteria to be classified as pathogenic.

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