ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.1382G>A (p.Arg461Gln) (rs145637617)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000589998 SCV000279050 uncertain significance not provided 2018-02-20 criteria provided, single submitter clinical testing The R461Q missense substitution in the MEFV gene has also neither been published as a pathogenic variant, nor reported as a benign polymorphism, to our knowledge. R461Q represents a non-conservative amino acid substitution, as a positively-charged Arginine residue is replaced with a neutral, polar Glutamine residue. However, the position in the MEFV protein where this substitution occurs is not highly conserved among species. Therefore, based on the currently available information, it is unclear whether R461Q is a pathogenic variant or a rare benign variant.
Integrated Genetics/Laboratory Corporation of America RCV000589998 SCV000696046 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing Variant summary: The MEFV c.1382G>A (p.Arg461Gln) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 25/121320 control chromosomes at a frequency of 0.0002061, which does not exceed the estimated maximal expected allele frequency of a pathogenic MEFV variant (0.0216506). In addition, one clinical diagnostic laboratory classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV001089281 SCV001057852 likely benign Familial Mediterranean fever 2019-12-31 criteria provided, single submitter clinical testing

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