ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.256C>T (p.Gln86Ter) (rs193186112)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724625 SCV000228908 pathogenic not provided 2015-03-11 criteria provided, single submitter clinical testing
Invitae RCV000177086 SCV000626700 pathogenic Glycogen storage disease type III 2020-09-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln86*) in the AGL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs193186112, ExAC 0.03%). This variant has been reported in the literature in individuals affected with glycogen storage disease (PMID: 10655153, 22899091, 20648714). ClinVar contains an entry for this variant (Variation ID: 196286). Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588509 SCV000697531 pathogenic Glycogen storage disease IIIa 2017-08-25 criteria provided, single submitter clinical testing Variant summary: The AGL c.256C>T (p.Gln86X) variant results in a premature termination codon, predicted to cause a truncated or absent AGL protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.3216_3217delGA (p.Glu1072fsX36) and c.4529dupA (p.Tyr1510X)). This variant was found in 3/121018 control chromosomes at a frequency of 0.0000248, which does not exceed the estimated maximal expected allele frequency of a pathogenic AGL variant (0.0022822). Multiple publications have cited the variant in affected individuals. In addition, a clinical diagnostic laboratory classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
GeneDx RCV000724625 SCV000890327 likely pathogenic not provided 2020-02-02 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 20648714, 22899091, 10655153, 31589614)
Fulgent Genetics,Fulgent Genetics RCV000177086 SCV000893164 pathogenic Glycogen storage disease type III 2018-10-31 criteria provided, single submitter clinical testing

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