ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.367C>T (p.Arg123Ter) (rs111033674)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686241 SCV000813751 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-01-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg123*) in the GALT gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with galactosemia (PMID: 22944367). Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). For these reasons, this variant has been classified as Pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727565 SCV000854803 pathogenic not provided 2018-07-13 criteria provided, single submitter clinical testing

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