Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000219419 | SCV000279390 | uncertain significance | not provided | 2020-09-09 | 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 |
Invitae | RCV000632789 | SCV000753977 | uncertain significance | Familial Mediterranean fever | 2022-06-12 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 446 of the MEFV protein (p.Glu446Ala). This variant is present in population databases (rs749651486, gnomAD 0.008%). 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: 234502). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Genome Diagnostics Laboratory, |
RCV002262826 | SCV002543701 | uncertain significance | Autoinflammatory syndrome | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002478821 | SCV002792336 | uncertain significance | Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis | 2022-01-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000632789 | SCV003802160 | uncertain significance | Familial Mediterranean fever | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003126637 | SCV003802161 | likely benign | Familial Mediterranean fever, autosomal dominant | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003126638 | SCV003802162 | likely benign | Acute febrile neutrophilic dermatosis | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000632789 | SCV001452077 | uncertain significance | Familial Mediterranean fever | 2020-09-16 | no assertion criteria provided | clinical testing |