Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000011637 | SCV001443728 | pathogenic | Pyruvate dehydrogenase E1-alpha deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | This variant (also referred to as p.Arg288His) has been previously reported as a heterozygous change in a similarly affected female with pyruvate dehydrogenase deficiency and skewed X-inactivation within fibroblasts (PMID: 10486093). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. The c.977G>A (p.Arg326His) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function.Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.977G>A (p.Arg326His) variant is classified as Pathogenic. |
OMIM | RCV000011637 | SCV000031869 | pathogenic | Pyruvate dehydrogenase E1-alpha deficiency | 1999-10-01 | no assertion criteria provided | literature only |