ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2853G>A (p.Trp951Ter)

dbSNP: rs1555603436
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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 RCV000668178 SCV001443301 uncertain significance Glycogen storage disease, type II 2023-04-07 reviewed by expert panel curation The NM_000152.5:c.2853G>A (p.Trp951Ter) variant in GAA is a nonsense variant predicted to cause a premature stop codon in the penultimate codon of the gene, thereby escaping nonsense-mediated decay and resulting in a 2 amino acid C-terminal truncation of GAA (PVS1_Moderate). The variant is absent in gnomAD v2.1.1 (PM2_Supporting). To our knowledge, this variant has not been reported in the literature in a patient with Pompe disease. There is a ClinVar entry for this variant (Variation ID: 552839). In summary, this variant meets the criteria to be classified as a variant of uncertain significance for Pompe disease. GAA-specific ACMG/AMP criteria met, based on the specifications of the ClinGen Lysosomal Diseases VCEP: PVS1_Moderate, PM2_Supporting. (Classification approved by the ClinGen Lysosomal Diseases VCEP on April 7, 2023).
Counsyl RCV000668178 SCV000792736 uncertain significance Glycogen storage disease, type II 2017-07-11 criteria provided, single submitter clinical testing

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