Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000757019 | SCV000885044 | pathogenic | not provided | 2017-06-09 | criteria provided, single submitter | clinical testing | To our knowledge, the ATP7A c.1435C>T; p.Gln479Ter variant has not been previously reported in the literature or gene-specific variant databases, nor listed in general population databases (Exome Variant Server, Genome Aggregation Database). This variant induces an early termination codon and is predicted to result in a truncated protein or absent transcript. Therefore, this variant is considered pathogenic. |