Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001048846 | SCV001212871 | uncertain significance | Familial Mediterranean fever | 2022-06-07 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 704 of the MEFV protein (p.Val704Gly). This variant is present in population databases (rs748891586, gnomAD 0.02%). This missense change has been observed in individual(s) with familial Mediterranean fever (PMID: 22566169). ClinVar contains an entry for this variant (Variation ID: 845727). 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: "Tolerated"; PolyPhen-2: "Possibly 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. |
Fulgent Genetics, |
RCV002479296 | SCV002785103 | uncertain significance | Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis | 2022-02-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001048846 | SCV003801560 | uncertain significance | Familial Mediterranean fever | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003127602 | SCV003801571 | likely benign | Familial Mediterranean fever, autosomal dominant | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003127603 | SCV003801582 | likely benign | Acute febrile neutrophilic dermatosis | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001048846 | SCV001462095 | uncertain significance | Familial Mediterranean fever | 2020-09-16 | no assertion criteria provided | clinical testing |