ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.846+8T>A

gnomAD frequency: 0.00007  dbSNP: rs372517543
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537803 SCV000626769 uncertain significance Glycogen storage disease type III 2022-08-21 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the AGL gene. It does not directly change the encoded amino acid sequence of the AGL protein. This variant is present in population databases (rs372517543, gnomAD 0.01%). 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: 456514). 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.
Fulgent Genetics, Fulgent Genetics RCV000537803 SCV002776968 uncertain significance Glycogen storage disease type III 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000537803 SCV004049930 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003392365 SCV004121238 uncertain significance AGL-related condition 2023-02-08 criteria provided, single submitter clinical testing The AGL c.846+8T>A variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-100336145-T-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV000537803 SCV002091463 uncertain significance Glycogen storage disease type III 2019-10-28 no assertion criteria provided clinical testing

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