Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409879 | SCV000486728 | likely pathogenic | Glutaric aciduria, type 1 | 2016-07-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001572317 | SCV001796933 | pathogenic | not provided | 2019-09-27 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000409879 | SCV002233357 | pathogenic | Glutaric aciduria, type 1 | 2023-07-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile67Serfs*75) in the GCDH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GCDH are known to be pathogenic (PMID: 10699052, 11854167, 16602100). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GCDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 371205). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000409879 | SCV004199236 | likely pathogenic | Glutaric aciduria, type 1 | 2023-07-17 | criteria provided, single submitter | clinical testing |