ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1502G>A (p.Arg501His)

gnomAD frequency: 0.00014  dbSNP: rs104895196
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000083700 SCV001016578 likely benign Familial Mediterranean fever 2024-01-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192542 SCV001360754 uncertain significance not specified 2022-05-23 criteria provided, single submitter clinical testing Variant summary: MEFV c.1502G>A (p.Arg501His) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00017 in 251744 control chromosomes (gnomAD, Carmi_2014). This frequency is not significantly higher than expected for a pathogenic variant in MEFV causing Familial Mediterranean Fever (0.00017 vs 0.022), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1502G>A in individuals affected with Familial Mediterranean Fever and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as likely benign. The Infevers database states that this variant was found in an asymptomatic individual who also carried MEFV c.442G>C (p.Glu148Gln) without providing any additional information and reports a validated classification of likely benign (Van Gijn_2018). Based on the evidence outlined above, the variant was classified as uncertain significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262633 SCV002543709 uncertain significance Autoinflammatory syndrome 2021-09-15 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083700 SCV000115789 not provided Familial Mediterranean fever no assertion provided not provided

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