ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1044G>A (p.Lys348=)

gnomAD frequency: 0.00001  dbSNP: rs1249705476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001472998 SCV001677142 likely benign Glycogen storage disease, type II 2023-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405111 SCV002707444 likely benign Cardiovascular phenotype 2020-11-01 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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