Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169104 | SCV000220300 | likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2014-05-08 | criteria provided, single submitter | literature only | |
Eurofins NTD LLC |
RCV000726277 | SCV000343386 | pathogenic | not provided | 2016-06-29 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000169104 | SCV001163791 | pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | criteria provided, single submitter | clinical testing | ||
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000169104 | SCV001363567 | likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2021-03-08 | criteria provided, single submitter | clinical testing | Variant summary: G6PC c.969C>A (p.Tyr323X) results in a premature termination codon, predicted to cause a truncation of the encoded protein. The variant was absent in 251410 control chromosomes (gnomAD). c.969C>A has been reported in the literature in individuals affected with Glycogen Storage Disease Type Ia (Calderaro_2013, Sperb-Ludwig_2019). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two other ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
Invitae | RCV000169104 | SCV001406031 | pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2021-09-01 | criteria provided, single submitter | clinical testing |