ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.938G>A (p.Trp313Ter) (rs1410159094)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666311 SCV000790582 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV000666311 SCV000814509 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-03-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp313*) 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 combination with another variant in the GALT gene in an individual with absent GALT activity in erythrocytes, findings that are highly specific for galactose-1-phosphate uridylyltransferase deficiency (PMID: 22944367, Invitae). Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). For these reasons, this variant has been classified as Pathogenic.

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