ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2070G>A (p.Pro690=)

gnomAD frequency: 0.00001  dbSNP: rs757802524
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001476827 SCV001681042 likely benign Glycogen storage disease, type II 2024-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002421093 SCV002726281 likely benign Cardiovascular phenotype 2021-07-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV004809633 SCV005436327 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing GAA: BP4, BP7

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