Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hacettepe Genetic Diseases Diagnosis Center, |
RCV000787336 | SCV000864242 | likely pathogenic | Sengers syndrome | 2016-04-07 | no assertion criteria provided | clinical testing | The c.1215dupG (p.Phe406Valfs*4) variant in AGK has been observed in a patient who died at the age of 9 months without a definitive diagnosis. Reverse genetics was used for diagnosis with whole exome sequencing and Sengers syndrome was consistent with the clinical findings. At the age of 3 months, physical examination showed that she had hypotonia, resistant vomiting attacks and failure to thrive. There was parental consanguinity and autosomal recessive inheritance pattern matching for this variant. The c.1215dupG (p.Phe406Valfs*4) variant in AGK meets our criteria to be classified as likely pathogenic. |