Pyruvate dehydrogenase E1-alpha deficiency
An X-linked recessive mode(s) within the Metabolic disorders category
Conflicting classifications of pathogenicity
1
Likely pathogenic
1
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000284.4(PDHA1):c.522C>T (p.Gly174=) | Single nucleotide variant | ChrX:19354502 | Conflicting classifications of pathogenicity | Synonymous variant|intron variant | rs769308417 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_000284.4(PDHA1):c.291+1_418+1dup | Duplication | ChrX:19350109 - 19350110 | Likely pathogenic | Splice acceptor variant|splice donor variant |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
|
| NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) | Single nucleotide variant | ChrX:19351368 | Pathogenic/Likely pathogenic | Missense variant | rs199959402 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution