Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411603 | SCV000486578 | likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2016-06-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000411603 | SCV000931561 | pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2021-08-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000411603 | SCV001362493 | pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2019-06-07 | criteria provided, single submitter | clinical testing | Variant summary: G6PC c.161A>C (p.Gln54Pro) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251444 control chromosomes (gnomAD). The variant, c.161A>C, has been reported in the literature in multiple individuals affected with Glycogen Storage Disease Type Ia (Trioche_1999, Angaroni_2004). These data indicate that the variant is very likely to be associated with disease. One publication, Shieh_2002, reports G6Pase activity of this residual variant remained <10% of normal activity. One ClinVar submissions from other clinical diagnostic laboratories (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Natera, |
RCV000411603 | SCV002093292 | pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2017-03-17 | no assertion criteria provided | clinical testing |