Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Clinical Services Laboratory, |
RCV000382606 | SCV000395073 | likely benign | Saldino-Mainzer syndrome | 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. |
| Gene |
RCV000767021 | SCV000491984 | uncertain significance | not provided | 2016-11-23 | criteria provided, single submitter | clinical testing | The Q1331H variant in the IFT140 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports Q1331H was observed in 23/8600 alleles (0.27%) from individuals of European ancestry, indicating it may be a rare variant in this population. The Q1331H variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution also occurs at a position that is conserved across mammalian species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Q1331H as a variant of uncertain significance. |
| EGL Genetic Diagnostics, |
RCV000413085 | SCV000703562 | likely benign | not specified | 2016-12-16 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000382606 | SCV001021173 | likely benign | Saldino-Mainzer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing |