Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198050 | SCV000252048 | uncertain significance | not provided | 2018-06-28 | criteria provided, single submitter | clinical testing | p.Arg28Cys (CGT>TGT): c.82 C>T in exon 2 of the PDHA1 gene (NM_000284.3). The R28C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R28C variant is observed in 1/18185 (0.005%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The R28C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. The variant is found in MITONUC-MITOP panel(s). |
Ambry Genetics | RCV002515421 | SCV003607295 | uncertain significance | Inborn genetic diseases | 2022-03-31 | criteria provided, single submitter | clinical testing | The c.82C>T (p.R28C) alteration is located in exon 2 (coding exon 2) of the PDHA1 gene. This alteration results from a C to T substitution at nucleotide position 82, causing the arginine (R) at amino acid position 28 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001276605 | SCV001463034 | uncertain significance | Pyruvate dehydrogenase complex deficiency | 2019-11-11 | no assertion criteria provided | clinical testing |