ClinVar Miner

Submissions for variant NM_138801.3(GALM):c.799C>G (p.Arg267Gly)

dbSNP: rs1229797646
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences 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

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