Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000366739 | SCV000329420 | uncertain significance | not provided | 2021-02-09 | criteria provided, single submitter | clinical testing | Reported in a patient with periodic fever in published literature (Federici et al., 2012); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22580583, 28421071, 30476289, 26247045) |
Labcorp Genetics |
RCV000030169 | SCV000940571 | uncertain significance | Familial Mediterranean fever | 2022-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 339 of the MEFV protein (p.Ser339Phe). This variant is present in population databases (rs104895157, gnomAD 0.06%). This missense change has been observed in individual(s) with familial Mediterranean fever (PMID: 21413889, 22580583, 22903357, 31989427). ClinVar contains an entry for this variant (Variation ID: 36497). 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: "Probably Damaging"; 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. |
ARUP Laboratories, |
RCV001001441 | SCV001158679 | uncertain significance | not specified | 2019-02-15 | criteria provided, single submitter | clinical testing | The MEFV c.1016C>T; p.Ser339Phe (rs104895157) is reported in the Infevers database in an individual without a described phenotype (see link below). The variant is reported in the ClinVar database (Variation ID: 36497) and in the general population with an overall allele frequency of 0.02% (50/279412 alleles) in the Genome Aggregation Database. The serine at this position is moderately conserved and computational analyses (SIFT: tolerated, PolyPhen-2: possibly damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the variant is uncertain at this time. References: Link to Infevers database: https://infevers.umai-montpellier.fr/web/search.php?n=1 |
Illumina Laboratory Services, |
RCV000030169 | SCV001279958 | uncertain significance | Familial Mediterranean fever | 2017-06-14 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Clinical Genetics and Genomics, |
RCV000366739 | SCV001449584 | uncertain significance | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000030169 | SCV001805999 | uncertain significance | Familial Mediterranean fever | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262577 | SCV002543684 | uncertain significance | Autoinflammatory syndrome | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003466877 | SCV004194409 | uncertain significance | Familial Mediterranean fever, autosomal dominant | 2024-03-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005016299 | SCV005646814 | uncertain significance | Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis | 2024-04-21 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030169 | SCV000052827 | uncertain significance | Familial Mediterranean fever | 2015-10-02 | no assertion criteria provided | clinical testing | |
Unité médicale des maladies autoinflammatoires, |
RCV000030169 | SCV000115765 | not provided | Familial Mediterranean fever | no assertion provided | not provided | ||
Natera, |
RCV000030169 | SCV001452082 | uncertain significance | Familial Mediterranean fever | 2020-09-16 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000366739 | SCV001927517 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000366739 | SCV001953208 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004739311 | SCV005344956 | uncertain significance | MEFV-related disorder | 2024-07-18 | no assertion criteria provided | clinical testing | The MEFV c.1016C>T variant is predicted to result in the amino acid substitution p.Ser339Phe. This variant has been reported the heterozygous and compound heterozygous states in multiple individuals with familial Mediterranean fever (Berdeli et al. 2011. PubMed ID: 21413889; Balta et al. 2020. PubMed ID: 31989427; Lainka et al. 2012. PubMed ID: 22903357; Federici et al. 2012. PubMed ID: 22580583). This variant is reported in 0.049% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |