Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000272670 | SCV000398314 | uncertain significance | Retinitis pigmentosa | 2018-01-12 | 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 |
RCV000755934 | SCV000618497 | uncertain significance | not provided | 2017-06-16 | criteria provided, single submitter | clinical testing | The D951E variant in the CNGB1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D951E variant is observed in 199/9766 (2.04%) alleles from individuals of African background, including one homozygous individual, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D951E variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D951E as a variant of uncertain significance. |
| ARUP Laboratories, |
RCV000755934 | SCV000883613 | likely benign | not provided | 2017-06-07 | criteria provided, single submitter | clinical testing | The CNGB1 c.2853C>A;p.Asp951Glu variant (rs7190978) is listed in the Exome Variant Server with an allele frequency of 1.4423 percent (60/4100 alleles) in the African American population in the Exome Variant Server and 1.981 percent (476/24024 alleles, 7 homozygotes) in the African population in the Genome Aggregation Database. The variant is listed in the ClinVar database (Variation ID: 320070). Considering the relatively high population frequency, this variant is classified as likely benign. |
| Invitae | RCV000755934 | SCV001722650 | benign | not provided | 2024-01-23 | criteria provided, single submitter | clinical testing |