Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000213498 | SCV000279037 | uncertain significance | not provided | 2021-08-25 | criteria provided, single submitter | clinical testing | Reported in a review paper as a variant of uncertain significance; no patient information is provided as the variant was sourced from ClinVar (Martorana D et al., 2017); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28421071) |
Invitae | RCV001247010 | SCV001420407 | uncertain significance | Familial Mediterranean fever | 2022-09-26 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 183 of the MEFV protein (p.Pro183Thr). This variant is present in population databases (rs202196752, gnomAD 0.2%). 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: 234358). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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, |
RCV002262822 | SCV002542289 | uncertain significance | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002500739 | SCV002788019 | uncertain significance | Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis | 2022-03-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001247010 | SCV003802320 | uncertain significance | Familial Mediterranean fever | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003126625 | SCV003802321 | likely benign | Familial Mediterranean fever, autosomal dominant | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003126626 | SCV003802322 | likely benign | Acute febrile neutrophilic dermatosis | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001247010 | SCV002087448 | uncertain significance | Familial Mediterranean fever | 2019-10-28 | no assertion criteria provided | clinical testing |