Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000816048 | SCV000956537 | uncertain significance | Pyruvate dehydrogenase E1-alpha deficiency | 2018-08-12 | criteria provided, single submitter | clinical testing | This variant, c.1117_1128delCCACCTTTTGAA, results in the deletion of 4 amino acid(s) of the PDHA1 protein (p.Pro373_Glu376del), but otherwise preserves the integrity of the reading frame. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. This variant has not been reported in the literature in individuals with PDHA1-related disease. This variant is not present in population databases (ExAC no frequency). |