Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Integrated Genetics/Laboratory Corporation of America | 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. |