ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.326G>A (p.Arg109Gln)

gnomAD frequency: 0.00004  dbSNP: rs199689080
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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-Nilou Lab RCV000688360 SCV004049475 uncertain significance Congenital myasthenic syndrome 15 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343811 SCV004049476 uncertain significance Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab 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

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