ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.895T>G (p.Trp299Gly)

dbSNP: rs773101055
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763890 SCV002000098 uncertain significance not provided 2020-10-22 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002506798 SCV002779153 uncertain significance Glycogen storage disease type III 2021-09-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002506798 SCV004049933 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040269 SCV004872493 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing The c.895T>G (p.W299G) alteration is located in exon 7 (coding exon 6) of the AGL gene. This alteration results from a T to G substitution at nucleotide position 895, causing the tryptophan (W) at amino acid position 299 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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