Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000445121 | SCV000516145 | uncertain significance | not provided | 2021-05-07 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28492532, 28733338) |
Invitae | RCV000688360 | SCV000815968 | uncertain significance | Congenital myasthenic syndrome 15 | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 109 of the ALG14 protein (p.Arg109Gln). This variant is present in population databases (rs199689080, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of ALG14-congenital disorder of glycosylation (PMID: 28733338, 33751823). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 379351). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
SIB Swiss Institute of Bioinformatics | RCV001260486 | SCV001571394 | uncertain significance | Myopathy, epilepsy, and progressive cerebral atrophy | 2021-04-13 | criteria provided, single submitter | curation | This variant is interpreted as a variant of uncertain significance for Myopathy, epilepsy, and progressive cerebral atrophy, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3). |
Athena Diagnostics Inc | RCV000445121 | SCV002817212 | uncertain significance | not provided | 2020-12-31 | criteria provided, single submitter | clinical testing | This observation is not an independent occurrence and has been identified in the same individual by RCIGM, the other laboratory participating in the GEMINI study. |
Genome- |
RCV000688360 | SCV004049475 | uncertain significance | Congenital myasthenic syndrome 15 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003343811 | SCV004049476 | uncertain significance | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001260486 | SCV004049477 | uncertain significance | Myopathy, epilepsy, and progressive cerebral atrophy | 2023-04-11 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001260486 | SCV001437508 | pathogenic | Myopathy, epilepsy, and progressive cerebral atrophy | 2020-10-05 | no assertion criteria provided | literature only |