Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000711945 | SCV000842356 | likely benign | not provided | 2017-12-05 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV001000671 | SCV001157701 | uncertain significance | not specified | 2019-04-22 | criteria provided, single submitter | clinical testing | The HSPG2 c.8554G>A; p.Gly2852Arg variant (rs199942544), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall frequency of 0.6 percent in the Ashkenazi Jewish population (identified on 64 out of 10,354 chromosomes) and has been reported to the ClinVar database (Variation ID: 586007). The arginine at position 2852 is highly conserved and computational analyses of the effects of the p.Gly2852Arg variant on protein structure and function is deleterious (SIFT: damaging, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Gly2852Arg variant with certainty. |
| Illumina Laboratory Services, |
RCV001100314 | SCV001256827 | uncertain significance | Lethal Kniest-like 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, 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, |
RCV001100315 | SCV001256828 | uncertain significance | Schwartz-Jampel 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, 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. |
| Invitae | RCV000711945 | SCV003779786 | likely benign | not provided | 2023-07-26 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV000711945 | SCV003811318 | uncertain significance | not provided | 2019-04-17 | criteria provided, single submitter | clinical testing |