ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)

gnomAD frequency: 0.00019  dbSNP: rs146762316
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000657136 SCV000226203 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing
GeneDx RCV000657136 SCV000618139 uncertain significance not provided 2021-05-04 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
Invitae RCV000540247 SCV000626549 likely benign Glycogen storage disease, type II 2024-01-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000540247 SCV000883929 uncertain significance Glycogen storage disease, type II 2020-12-11 criteria provided, single submitter clinical testing The GAA c.2156C>A; p.Ala719Glu variant (rs146762316), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 194458). This variant is found in the non-Finnish European population with an overall allele frequency of 0.03% (36/110930 alleles) in the Genome Aggregation Database. The alanine at codon 719 is weakly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.273). However, due to limited information, the clinical significance of the p.Ala719Glu variant is uncertain at this time.
Genome-Nilou Lab RCV000540247 SCV001810178 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000657136 SCV003828512 uncertain significance not provided 2022-12-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV000540247 SCV004040671 uncertain significance Glycogen storage disease, type II 2023-02-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000540247 SCV001459751 uncertain significance Glycogen storage disease, type II 2020-09-16 no assertion criteria provided clinical testing

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