Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003727844 | SCV004536974 | pathogenic | not provided | 2023-07-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 873021). This premature translational stop signal has been observed in individual(s) with galactosemia (PMID: 30451973). This variant is present in population databases (rs115413295, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.Arg82*) in the GALM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALM are known to be pathogenic (PMID: 30451973). |
OMIM | RCV001093636 | SCV001250827 | pathogenic | Galactosemia 4 | 2020-05-14 | no assertion criteria provided | literature only |