Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV001082053 | SCV000429408 | benign | D-2-hydroxyglutaric aciduria 1 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Gene |
RCV000498804 | SCV000590384 | uncertain significance | not provided | 2017-06-06 | criteria provided, single submitter | clinical testing | The R395W variant in the D2HGDH gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R395W variant is observed in 108/8608 (1.25%) alleles from individuals of East Asian background, in the ExAC dataset (Lek et al., 2016). The R395W 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. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R395W as a variant of uncertain significance. |
Invitae | RCV001082053 | SCV001030469 | benign | D-2-hydroxyglutaric aciduria 1 | 2019-12-31 | criteria provided, single submitter | clinical testing |