Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413526 | SCV000491976 | pathogenic | not provided | 2016-12-13 | criteria provided, single submitter | clinical testing | The c.1399dupA variant in the GALC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1399dupA variant causes a frameshift starting with codon Threonine 467, changes this amino acid to an Asparagine residue, and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Thr467AsnfsX25. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1399dupA variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1399dupA as a pathogenic variant. |