Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000801094 | SCV000940852 | pathogenic | not provided | 2023-09-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg136Profs*40) in the GFM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GFM1 are known to be pathogenic (PMID: 16632485, 17160893). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GFM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 646742). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV004569574 | SCV005058965 | likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 2024-03-02 | criteria provided, single submitter | clinical testing |