ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1018G>T (p.Glu340Ter)

dbSNP: rs111033806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000022264 SCV001160733 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-04-22 criteria provided, single submitter research This variant was identified as homozygous in a female individual with galactosemia.
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV000022264 SCV004171108 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-11-28 criteria provided, single submitter clinical testing

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