ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.867G>A (p.Ala289=)

gnomAD frequency: 0.00003  dbSNP: rs534515557
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430754 SCV000526454 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Invitae RCV000954057 SCV001100663 likely benign Glycogen storage disease, type II 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446700 SCV002683371 likely benign Cardiovascular phenotype 2022-05-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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