ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.166C>T (p.Gln56Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005131135 SCV005755901 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2024-05-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln56*) in the GALT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GALT-related conditions. For these reasons, this variant has been classified as Pathogenic.

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