ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1138T>C (p.Ter380Arg)

gnomAD frequency: 0.00001  dbSNP: rs111033824
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003037321 SCV003441337 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2022-06-11 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the GALT mRNA. It is expected to extend the length of the GALT protein by 49 additional amino acid residues. This variant is present in population databases (rs111033824, gnomAD 0.003%). This protein extension has been observed in individual(s) with galactose-1-phosphate uridylyltransferase deficiency (PMID: 10649501, 15633893, 20213376, 34030713). This variant is also known as p.Ter380Arg, X380R. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this protein extension affects GALT function (PMID: 15633893). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003037321 SCV004198515 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-08-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004790327 SCV005413886 pathogenic not provided 2024-02-09 criteria provided, single submitter clinical testing PP4, PM2_moderate, PM3, PM4, PM5, PS4

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