Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000339948 | SCV000397248 | benign | Blau 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV001782818 | SCV000397249 | uncertain significance | Inflammatory bowel disease 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. |
Invitae | RCV002522864 | SCV001038654 | benign | Blau syndrome; Regional enteritis | 2024-01-26 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001812848 | SCV001472397 | uncertain significance | not provided | 2021-03-16 | criteria provided, single submitter | clinical testing | The NOD2 c.2003C>T; p.Pro668Leu variant (rs5743275), to our knowledge, is not reported in the medical literature but is reported in the Infevers database (see link). This variant is reported in ClinVar (Variation ID: 319456) and is found in the Ashkenazi Jewish population with an allele frequency of 1% (99/10108 alleles) in the Genome Aggregation Database. The proline at codon 668 is moderately conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.385). However, given the lack of clinical and functional data, the significance of the p.Pro668Leu variant is uncertain at this time. References: Link to Infevers database: https://infevers.umai-montpellier.fr/web/search.php?n=6 |
Genome Diagnostics Laboratory, |
RCV002261060 | SCV002542671 | likely benign | Autoinflammatory syndrome | 2021-03-16 | criteria provided, single submitter | clinical testing |