Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000126741 | SCV000170253 | benign | not specified | 2013-12-14 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| ARUP Laboratories, |
RCV000757454 | SCV000885686 | likely benign | not provided | 2017-09-16 | criteria provided, single submitter | clinical testing | The MEFV c.549G>A;p.Pro183Pro (rs587781035) variant has not been described in the medical literature, but is listed in the ClinVar database as benign (Variation ID: 138207). The variant is listed in the Genome Aggregation Database as a rare variant (10/184110 alleles). This is a silent variant, the nucleotide at this position is not well conserved across species, and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predict this variant does not significantly alter splicing. Additionally, this variant is inconsistent with the pathogenic mechanism of familial Mediterranean fever. Although this variant has been described in an individual with ulcerative colitis (see link below), this variant is classified as likely benign. References: Link to MEFV database: http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=1 |
| Labcorp Genetics |
RCV000802334 | SCV000942159 | likely benign | Familial Mediterranean fever | 2025-01-19 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000802334 | SCV001276123 | uncertain significance | Familial Mediterranean fever | 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000126741 | SCV001442695 | likely benign | not specified | 2020-10-16 | criteria provided, single submitter | clinical testing |