ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.352C>T (p.Gln118Ter)

dbSNP: rs1555598800
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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 RCV000669430 SCV001443282 pathogenic Glycogen storage disease, type II 2020-05-19 reviewed by expert panel curation This variant, c.352C>T (p.Gln118Ter), is a nonsense variant that is predicted to cause nonsense mediated decay and lack of gene product, meeting PVS1. The variant is absent in gnomAD v2.1.1, meeting PM2. It has been reported in a patient with Pompe disease that meets the ClinGen LSD VCEP's PP4 specifications (PMID 22252923, personal communication). There is a ClinVar entry for this variant (Variation ID: 553894; 1 star review status) with one submitter classifying the variant as likely pathogenic. In summary, this variant meets the criteria to be classified as pathogenic for Pompe disease. GAA-specific ACMG/AMP criteria applied, as specified by the ClinGen LSD VCEP: PVS1, PM2, PP4.
Counsyl RCV000669430 SCV000794180 likely pathogenic Glycogen storage disease, type II 2017-09-18 criteria provided, single submitter clinical testing

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