Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000407766 | SCV000347927 | uncertain significance | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 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. |
| ARUP Laboratories, |
RCV000407766 | SCV004565023 | uncertain significance | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2023-04-05 | criteria provided, single submitter | clinical testing | The PLOD1 c.2069G>A; p.Arg690Gln variant (rs886045208), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 292350). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL:0.154). Due to limited information, the clinical significance of this variant is uncertain at this time. |