Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001137956 | SCV001297955 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B | 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. |
| Illumina Laboratory Services, |
RCV001142700 | SCV001303173 | uncertain significance | Familial hypobetalipoproteinemia 1 | 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. |
| ARUP Laboratories, |
RCV001811671 | SCV002049937 | uncertain significance | not provided | 2021-07-23 | criteria provided, single submitter | clinical testing | The APOB c.3449T>A; p.Met1150Lys variant (rs146223051), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 895699). This variant is only observed on six alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The methionine at codon 1150 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.190). Due to limited information, the clinical significance of the p.Met1150Lys variant is uncertain at this time. |
| Fulgent Genetics, |
RCV002480516 | SCV002782396 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-08-02 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV002480516 | SCV004576800 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-04 | criteria provided, single submitter | clinical testing |