Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000529080 | SCV000639598 | likely benign | ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003317265 | SCV004021261 | uncertain significance | not specified | 2023-06-07 | criteria provided, single submitter | clinical testing | Variant summary: ALG2 c.348+6G>A alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00017 in 135986 control chromosomes. To our knowledge, no occurrence of c.348+6G>A in individuals affected with Congenital Disorder Of Glycosylation, Type 1i and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted a clinical-significance assessment for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified it as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Prevention |
RCV003942791 | SCV004761024 | likely benign | ALG2-related condition | 2019-12-12 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |