Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000083779 | SCV001212803 | uncertain significance | Familial Mediterranean fever | 2022-06-03 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 175 of the MEFV protein (p.Pro175His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MEFV-related conditions. ClinVar contains an entry for this variant (Variation ID: 97527). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV001588911 | SCV001826962 | uncertain significance | not provided | 2020-07-15 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome Diagnostics Laboratory, |
RCV002262647 | SCV002542288 | uncertain significance | Autoinflammatory syndrome | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490736 | SCV002793542 | uncertain significance | Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis | 2022-05-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000083779 | SCV003802340 | uncertain significance | Familial Mediterranean fever | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003126477 | SCV003802341 | likely benign | Familial Mediterranean fever, autosomal dominant | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003126478 | SCV003802342 | likely benign | Acute febrile neutrophilic dermatosis | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Unité médicale des maladies autoinflammatoires, |
RCV000083779 | SCV000115877 | not provided | Familial Mediterranean fever | no assertion provided | not provided | ||
Natera, |
RCV000083779 | SCV002087452 | uncertain significance | Familial Mediterranean fever | 2020-09-24 | no assertion criteria provided | clinical testing |