ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.888C>G (p.Tyr296Ter) (rs1554709447)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587954 SCV000695707 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2016-04-04 criteria provided, single submitter clinical testing Variant summary: The c.888C>G (p.Y296*) variant in GALT gene is a nonsense mutation. The mutation is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. The variant has not, to our knowledge, been reported in affected individuals via published reports or multiple reputable databases/diagnostic centers. The variant is absent from ExAC. Other downstream truncated variants, c.899G>A (p.W300*), c.920C>A (p.S307*) and c.938G>A (p.W313*) were identified in affected individuals and classified as pathogenic. Taken together, the variant was classified as Likely Pathogenic until additional evidence becomes available.

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