ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3])

dbSNP: rs1555598846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel RCV000665533 SCV001371743 uncertain significance Glycogen storage disease, type II 2023-03-13 reviewed by expert panel curation The NM_000152.5:c.400_408dup variant in GAA is predicted to cause a change in the length of the protein due to an in-frame duplication of 3 amino acids in a non-repeat region (p.Pro134_Tyr136dup) (PM4). The variant is absent in gnomAD v2.1.1. (PM2_Supporting). To our knowledge, this variant has not been reported in the literature in individuals with Pompe disease, and results of experimental studies are not available. Computational evidence is conflicting; PROVEAN predicts that the variant will impact the function of GAA, while Mutation Taster predicts no impact. No impact on splicing is predicted by SpliceAI. As a result, neither PP3 nor BP4 can be applied. There is a ClinVar entry for this variant (Variation ID: 550713). In summary, this variant meets the criteria to be classified as a variant of uncertain significance for Pompe disease. GAA-specific ACMG/AMP criteria applied, as specified by the ClinGen Lysosomal Diseases VCEP: PM4, PM2_Supporting. (Classification approved by the ClinGen Lysosomal Diseases VCEP on March 13, 2023).
Counsyl RCV000665533 SCV000789673 uncertain significance Glycogen storage disease, type II 2017-02-09 criteria provided, single submitter clinical testing

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