Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003413907 | SCV004108994 | uncertain significance | GALM-related condition | 2023-05-24 | criteria provided, single submitter | clinical testing | The GALM c.799C>G variant is predicted to result in the amino acid substitution p.Arg267Gly. This variant was reported along with a second GALM variant in two individuals with galactosemia that was unexplained by variants in the GALT, GALK1 or GALE genes (Wada et al. 2019. PubMed ID: 30451973). Experimental studies were consistent with the Arg267Gly substitution impacting galactose mutarotase protein function (Wada et al. 2019. PubMed ID: 30451973). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
OMIM | RCV001093637 | SCV001250828 | pathogenic | Galactosemia 4 | 2020-05-14 | no assertion criteria provided | literature only |