Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000197092 | SCV000252065 | uncertain significance | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
New York Genome Center | RCV001420534 | SCV001622837 | uncertain significance | Pyruvate dehydrogenase E3-binding protein deficiency | 2020-07-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000197092 | SCV002290833 | uncertain significance | not provided | 2021-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with glycine at codon 351 of the PDHX protein (p.Asp351Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs200866298, ExAC 0.007%). This variant has not been reported in the literature in individuals affected with PDHX-related conditions. ClinVar contains an entry for this variant (Variation ID: 214964). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Ambry Genetics | RCV002515423 | SCV003708130 | uncertain significance | Inborn genetic diseases | 2022-04-12 | criteria provided, single submitter | clinical testing | The c.1052A>G (p.D351G) alteration is located in exon 9 (coding exon 9) of the PDHX gene. This alteration results from a A to G substitution at nucleotide position 1052, causing the aspartic acid (D) at amino acid position 351 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |