Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081984 | SCV000113919 | pathogenic | not provided | 2013-10-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000081984 | SCV000617788 | pathogenic | not provided | 2016-04-20 | criteria provided, single submitter | clinical testing | The c.1187+1 G>A splice site variant in the ALG1 gene has been previously reported in association with congenital disorders of glycosylation (Jones et al., 2013; Ng et al., 2016). This pathogenic variant destroys the canonical splice donor site in intron 11, and is expected to cause abnormal gene splicing. Therefore, we interpret c.1187+1 G>A to be a pathogenic variant. |
Fulgent Genetics, |
RCV002505001 | SCV002807980 | pathogenic | ALG1-congenital disorder of glycosylation | 2021-12-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002505001 | SCV003514022 | pathogenic | ALG1-congenital disorder of glycosylation | 2023-10-09 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 11 of the ALG1 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 ALG1 are known to be pathogenic (PMID: 20679665, 23806237). This variant is present in population databases (rs374928784, gnomAD 0.003%). Disruption of this splice site has been observed in individuals with clinical features of congenital disorder of glycosylation type 1 (PMID: 23806237, 32064623). ClinVar contains an entry for this variant (Variation ID: 95934). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
University of Washington Center for Mendelian Genomics, |
RCV000851244 | SCV000993496 | likely pathogenic | Congenital disorder of glycosylation | 2017-05-25 | no assertion criteria provided | research |