Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000359483 | SCV000471111 | benign | Occult macular dystrophy | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
| Ce |
RCV000998988 | SCV001155365 | uncertain significance | not provided | 2017-02-01 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV000998988 | SCV001550133 | uncertain significance | not provided | no assertion criteria provided | clinical testing | The RP1L1 p.T1526M variant was not identified in the literature but was identified in dbSNP (ID: rs267601688) and ClinVar (classified as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen; and as benign by Illumina). The variant was identified in control databases in 33 of 244176 chromosomes at a frequency of 0.0001351, and was observed at the highest frequency in the South Asian population in 24 of 30440 chromosomes (freq: 0.0007884) (Genome Aggregation Database March 6, 2019, v2.1.1). The p.T1526 residue is not conserved in mammals and other organisms and computational analyses (MUT Assesor, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) do not suggest a high likelihood of impact to the protein; however this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (Splice AI exome) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. |