Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000389387 | SCV000404253 | uncertain significance | Glycogen storage disease due to muscle beta-enolase deficiency | 2017-04-27 | criteria provided, single submitter | clinical testing | The ENO3 c.843delG (p.Glu278AspfsTer34) variant results in a frameshift, and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.00001 in the European (non-Finnish) population from the Exome Aggregation Consortium, though this is based on a single allele in a region of good sequence coverage so the variant is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance, but suspicious for pathogenicity for glycogen storage disease type XIII. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |