ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)

gnomAD frequency: 0.00021  dbSNP: rs148311222
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543300 SCV000626555 likely benign Glycogen storage disease, type II 2024-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000543300 SCV002780230 uncertain significance Glycogen storage disease, type II 2021-07-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144317 SCV003828489 uncertain significance not provided 2021-11-26 criteria provided, single submitter clinical testing
GeneDx RCV003144317 SCV005848357 uncertain significance not provided 2024-08-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 19343043, 22253258)
Natera, Inc. RCV000543300 SCV001455434 uncertain significance Glycogen storage disease, type II 2019-10-28 no assertion criteria provided clinical testing

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