ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1984A>G (p.Lys662Glu)

gnomAD frequency: 0.00009  dbSNP: rs1348832741
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216278 SCV001388068 uncertain significance Familial Mediterranean fever 2022-11-21 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 945605). This variant has not been reported in the literature in individuals affected with MEFV-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 662 of the MEFV protein (p.Lys662Glu).
Natera, Inc. RCV001216278 SCV001465372 uncertain significance Familial Mediterranean fever 2020-08-14 no assertion criteria provided clinical testing

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