Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000284592 | SCV000365215 | uncertain significance | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Gene |
RCV000498635 | SCV000590564 | uncertain significance | not provided | 2018-06-13 | criteria provided, single submitter | clinical testing | The D1094N variant in the POLR3A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D1094N variant is observed in 27/10098 (0.26%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016). The D1094N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D1094N as a variant of uncertain significance. |
| Invitae | RCV000498635 | SCV001115622 | likely benign | not provided | 2021-11-08 | criteria provided, single submitter | clinical testing |