Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482009 | SCV000572189 | likely pathogenic | not provided | 2016-11-15 | criteria provided, single submitter | clinical testing | The c.173delT variant in the GALC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Isoleucine 58, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Ile58ThrfsX14. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.173delT variant was not observed in the Exome Aggregation Consortium (ExAC) data set, indicating it is not a common benign variant. The c.173delT variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded. |