ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2430C>G (p.Pro810=)

dbSNP: rs554839058
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000980479 SCV001128433 likely benign Glycogen storage disease, type II 2023-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454223 SCV002737517 likely benign Cardiovascular phenotype 2020-08-30 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.
CeGaT Center for Human Genetics Tuebingen RCV003424515 SCV004146278 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing GAA: BP4, BP7

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