ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1082+4T>A

gnomAD frequency: 0.00001  dbSNP: rs781204563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599977 SCV000719257 likely benign not specified 2017-05-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001062252 SCV001227037 uncertain significance Glycogen storage disease type III 2022-01-01 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the AGL gene. It does not directly change the encoded amino acid sequence of the AGL protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs781204563, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with AGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 509467). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001062252 SCV002055527 likely benign Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing

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