ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1094A>G (p.His365Arg)

dbSNP: rs1821228599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193606 SCV001362553 uncertain significance not specified 2019-07-19 criteria provided, single submitter clinical testing Variant summary: GALT c.1094A>G (p.His365Arg) results in a non-conservative amino acid change located in the Galactose-1-phosphate uridyl transferase, C-terminal domain (IPR005850) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251440 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1094A>G in individuals affected with Galactosemia and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Mayo Clinic Laboratories, Mayo Clinic RCV003480982 SCV004224258 uncertain significance not provided 2023-02-28 criteria provided, single submitter clinical testing PP3, PP4, PM2
Natera, Inc. RCV001833745 SCV002085260 uncertain significance Galactosemia 2020-06-20 no assertion criteria provided clinical testing

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