Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Clinical Services Laboratory, |
RCV001095110 | SCV000454549 | likely benign | Charcot-Marie-Tooth disease, type 4C | 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Illumina Clinical Services Laboratory, |
RCV000268641 | SCV000454550 | likely benign | Mononeuropathy of the median nerve, mild | 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Invitae | RCV000360932 | SCV001003297 | likely benign | Charcot-Marie-Tooth disease type 4 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
| Diagnostics Lab |
RCV001030761 | SCV001190224 | uncertain significance | Hereditary motor and sensory neuropathy | 2019-12-24 | criteria provided, single submitter | clinical testing | The c.1942C>T variant is not present in publicly available database like Exome Variant Server (EVS), however present in 1000 Genomes, Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP at a low minor allele frequency (MAF<0.001), including one homozygote. The variant is present in our in-house exome database in heterozygous state (MAF~0.005). The variant was reported to ClinVar (Accession ID: VCV000351908.2) with conflicting interpretation of pathogenicity (likely benign/uncertain significance). In-silico pathogenicity prediction programslike SIFT, PolyPhen-2, MutationTaster2, CADD etc. predicted this variant as likely deleterious, however functional assay was not done to prove this. Due to lack of enough evidence the variant has been classified as uncertain significance. |