ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.710C>T (p.Ala237Val) (rs121907944)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664615 SCV000788610 uncertain significance Glycogen storage disease, type II 2017-04-28 criteria provided, single submitter clinical testing
OMIM RCV000004250 SCV000024416 pathogenic Glycogen storage disease II, adult form 2005-01-25 no assertion criteria provided literature only
Broad Institute Rare Disease Group,Broad Institute RCV000664615 SCV001422612 uncertain significance Glycogen storage disease, type II 2020-01-22 no assertion criteria provided curation The heterozygous p.Ala237Val variant in GAA has been reported in 1 German individual with Glycogen Storage Disease II (PMID: 15668445), and has also been reported as a VUS by Counsyl and pathogenic by OMIM in ClinVar (Variation ID: 4035). This variant has been identified in 0.013% (4/30616) of South Asian chromosomes and 0.001% (1/113342) European (non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD,; dbSNP rs121907944). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. The presence of this variant in combination with a reported pathogenic variant and in an individual with Glycogen Storage Disease II increases the likelihood that the p.Ala237Val variant is pathogenic (PMID: 15668445). In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM3_Supporting, PM2, PP4 (Richards 2015).

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