Submissions for variant NM_000642.3(AGL):c.2158-2A>G

dbSNP: rs878959417

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000673863	SCV000799113	likely pathogenic	Glycogen storage disease type III	2018-04-12	criteria provided, single submitter	clinical testing
Invitae	RCV000673863	SCV000836185	likely pathogenic	Glycogen storage disease type III	2021-09-24	criteria provided, single submitter	clinical testing	This variant is not present in population databases (ExAC no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 557690). Disruption of this splice site has been observed in individual(s) with AGL-related conditions (Invitae). This sequence change affects an acceptor splice site in intron 16 of the AGL gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494).
Fulgent Genetics, Fulgent Genetics	RCV000673863	SCV002811689	likely pathogenic	Glycogen storage disease type III	2022-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000673863	SCV004049994	likely pathogenic	Glycogen storage disease type III	2023-04-11	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000673863	SCV002091534	likely pathogenic	Glycogen storage disease type III	2021-05-13	no assertion criteria provided	clinical testing