ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.2111T>G (p.Val704Gly)

gnomAD frequency: 0.00004  dbSNP: rs748891586
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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, 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-Nilou Lab RCV001048846 SCV003801560 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127602 SCV003801571 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127603 SCV003801582 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001048846 SCV001462095 uncertain significance Familial Mediterranean fever 2020-09-16 no assertion criteria provided clinical testing

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