ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2704_2716dup (p.Val906fs)

dbSNP: rs1057516189
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000408809 SCV003025857 pathogenic Glycogen storage disease, type II 2021-12-26 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the GAA gene (p.Val906Alafs*116). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acid(s) of the GAA protein and extend the protein by 68 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GAA protein in which other variant(s) (p.Tyr928Cys) have been determined to be pathogenic (PMID: 22252923, 29122469, 31606152, 33741225). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 369944). This variant has not been reported in the literature in individuals affected with GAA-related conditions.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000408809 SCV000484913 pathogenic Glycogen storage disease, type II no assertion criteria provided clinical testing

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