Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000207120 | SCV000257541 | likely pathogenic | Pyruvate carboxylase deficiency | 2014-11-05 | no assertion criteria provided | clinical testing | Previous child expired with mitochondrial disorder and showcased symptoms like increased serum lactate, alanine and tyrosine; had brown hair and suffered from severe acidosis; vomiting, convulsions from 3 months of age; cardiac arrest and died at 3 years. Both the mutations were likely to be pathogenic by online software including MutationTaster, SIFT and Polyphen. |