Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193577 | SCV001362496 | likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2019-10-17 | criteria provided, single submitter | clinical testing | Variant summary: G6PC c.479G>A (p.Trp160X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.508C>T (p.Arg170X), c.1039C>T (p.Gln347X)). The variant was absent in 251484 control chromosomes (gnomAD). c.479G>A has been reported in the literature at least in an individual affected with Glycogen Storage Disease Type Ia (Xu_2010). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
Natera, |
RCV001193577 | SCV002093308 | likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2021-01-26 | no assertion criteria provided | clinical testing |