ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.289C>A (p.Gln97Lys)

dbSNP: rs747515115
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514677 SCV000610650 uncertain significance not provided 2017-09-15 criteria provided, single submitter clinical testing
Invitae RCV000632795 SCV000753984 uncertain significance Familial Mediterranean fever 2022-08-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 97 of the MEFV protein (p.Gln97Lys). This variant is present in population databases (rs747515115, gnomAD 0.01%). This missense change has been observed in individual(s) with familial Mediterranean fever (PMID: 26215181). ClinVar contains an entry for this variant (Variation ID: 445870). 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 lysine 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, The Hospital for Sick Children RCV002263722 SCV002543749 uncertain significance Autoinflammatory syndrome 2021-03-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000632795 SCV003802433 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126786 SCV003802435 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126787 SCV003802436 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000632795 SCV002087474 uncertain significance Familial Mediterranean fever 2020-12-04 no assertion criteria provided clinical testing

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